Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
C14orf102	55051	broad.mit.edu	37	14	90756620	90756620	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:90756620G>A	uc001xyi.2	-	9	2407	c.2174C>T	c.(2173-2175)tCa>tTa	p.S725L	C14orf102_uc010atp.1_Missense_Mutation_p.S230L|C14orf102_uc001xyj.2_Missense_Mutation_p.S494L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	725							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CTCTTTGCCTGAAAATAAAGG	0.502000														41			21		0	0	0.001882	0	0
HAUS3	79441	broad.mit.edu	37	4	2241913	2241913	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:2241913A>C	uc003ges.1	-	1	991	c.761T>G	c.(760-762)aTc>aGc	p.I254S	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.I254S|HAUS3_uc003get.1_Missense_Mutation_p.I254S	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	254					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCCTCAAGGATTTCTTGATT	0.363000														46			17		0	0	0.006122	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709250	128709250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:128709250G>A	uc001qeo.1	-	1	997	c.946C>T	c.(946-948)Cca>Tca	p.P316S	KCNJ1_uc001qep.1_Missense_Mutation_p.P297S|KCNJ1_uc001qeq.1_Missense_Mutation_p.P297S|KCNJ1_uc001qer.1_Missense_Mutation_p.P297S|KCNJ1_uc001qes.1_Missense_Mutation_p.P297S|KCNJ1_uc021qsb.1_Missense_Mutation_p.P297S	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	316					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ACCTCCTCTGGGACATAGGAT	0.498000														20			24		0	0	0.003330	0	0
KRT1	3848	broad.mit.edu	37	12	53069303	53069303	+	Missense_Mutation	SNP	C	T	T	rs59169454		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:53069303C>T	uc001sau.1	-	8	1668	c.1609G>A	c.(1609-1611)Ggt>Agt	p.G537S	KRT1_uc001sav.1_Missense_Mutation_p.G537S	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	537	Gly/Ser-rich.|Tail.		G -> C.		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ccatagctaccacctccggag	0.667000														8			9		0	0	0.004482	0	0
CCDC63	160762	broad.mit.edu	37	12	111317776	111317776	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:111317776C>T	uc001trv.1	+	5	751	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Nonsense_Mutation_p.R146*|CCDC63_uc001trw.1_Nonsense_Mutation_p.R101*	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	186										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TGAAGACCTACGATTTGAGAA	0.468000														56			47		0	0	0.003610	0	0
PKD2	5311	broad.mit.edu	37	4	88959629	88959629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:88959629C>T	uc003hre.3	+	3	1157	c.1070C>T	c.(1069-1071)cCc>cTc	p.P357L		NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	357						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GATAGGGCTCCCTTTGGGCCC	0.458000														62			29		0	0	0.004289	0	0
RSBN1	54665	broad.mit.edu	37	1	114308972	114308972	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:114308972C>G	uc001edq.3	-	6	2075	c.2039G>C	c.(2038-2040)aGa>aCa	p.R680T	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	680						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGACATTTCTAGGGATGAA	0.438000														79			32		0	0	0.002445	0	0
LRFN5	145581	broad.mit.edu	37	14	42360717	42360717	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42360717C>T	uc001wvm.3	+	3	2848	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	550						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTGATGATCCGGTATAAGG	0.403000										HNSCC(30;0.082)				72			29		0	0	0.005443	0	0
RC3H1	149041	broad.mit.edu	37	1	173952619	173952619	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173952619G>C	uc010pmt.2	-	2	616	c.529C>G	c.(529-531)Cag>Gag	p.Q177E	RC3H1_uc001gju.4_Missense_Mutation_p.Q177E|RC3H1_uc010pms.2_Missense_Mutation_p.Q177E|RC3H1_uc001gjv.3_Missense_Mutation_p.Q177E	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	177					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GAGAGTTGCTGAGGATTCTGG	0.463000														72			18		0	0	0.004990	0	0
MRC2	9902	broad.mit.edu	37	17	60757633	60757634	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:60757633_60757634GA>AC	uc002jad.3	+	14	2803_2804	c.2401_2402GA>AC	c.(2401-2403)gac>ACc	p.D801T	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	801	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding	p.C800Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CATGCAGTGCGACACACAGCTG	0.658000														26			12		0	0	0.004672	0	0
OR1A1	8383	broad.mit.edu	37	17	3118961	3118961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:3118961G>A	uc010vrc.2	+	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						ATCCTCCTGGGAGTTACTGGT	0.418000														22			27		0	0	0.003954	0	0
LPAR1	1902	broad.mit.edu	37	9	113704360	113704360	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:113704360C>T	uc011lwo.2	-	1	139	c.137G>A	c.(136-138)tGg>tAg	p.W46*	LPAR1_uc004bfa.3_Nonsense_Mutation_p.W45*|LPAR1_uc011lwm.2_Nonsense_Mutation_p.W46*|LPAR1_uc004bfc.3_Nonsense_Mutation_p.W45*|LPAR1_uc011lwn.2_Nonsense_Mutation_p.W27*|LPAR1_uc004bfb.3_Nonsense_Mutation_p.W45*|LPAR1_uc010mub.3_Nonsense_Mutation_p.W45*	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	45					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GACTGTGTTCCATTCTGTGGC	0.438000														24			20		0	0	0.001882	0	0
POLA2	23649	broad.mit.edu	37	11	65046208	65046209	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:65046208_65046209CC>GT	uc001odj.3	+	5	801_802	c.469_470CC>GT	c.(469-471)ccc>GTc	p.P157V	POLA2_uc009yqf.1_Missense_Mutation_p.P157V|POLA2_uc010rod.1_5'UTR|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	157	Pro/Ser/Thr-rich.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TAGTGCTACTCCCTCCCAGAAA	0.450000														108			53		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100683774	100683774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100683774C>T	uc003uxp.1	+	2	9130	c.9077C>T	c.(9076-9078)tCc>tTc	p.S3026F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3026	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3026S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCCTCTCCTACA	0.527000														227			127		0	0	0.003610	0	0
FREM1	158326	broad.mit.edu	37	9	14819410	14819410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:14819410C>T	uc003zlm.3	-	14	3184	c.2368G>A	c.(2368-2370)Gga>Aga	p.G790R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	790					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTGACCTCCCTCAGTCACT	0.468000														13			4		0	0	0.001168	0	0
TPH1	7166	broad.mit.edu	37	11	18054890	18054890	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:18054890C>T	uc001mnp.2	-	2	359	c.333G>A	c.(331-333)aaG>aaA	p.K111K	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	111					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GGTCAGAAATCTTCTTTGGAA	0.318000														141			65		0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175328779	175328779	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175328779C>T	uc001gkp.1	-	12	3024	c.2943G>A	c.(2941-2943)gaG>gaA	p.E981E	TNR_uc009wwu.1_Silent_p.E981E	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	981	Fibronectin type-III 8.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGACGTAGTTCTCCACCTCAC	0.522000														79			24		0	0	0.003954	0	0
ZNF766	90321	broad.mit.edu	37	19	52794150	52794150	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52794150C>A	uc002pyt.1	+	4	1528	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	ZNF766_uc002pyr.1_Missense_Mutation_p.S369Y|ZNF766_uc002pys.1_3'UTR	NM_001010851	NP_001010851	Q5HY98	ZN766_HUMAN	Homo sapiens zinc finger protein 766 (ZNF766), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CACAAGTTCTCCCTGACAGTT	0.403000														18			9		3.09899e-07	5.5869e-07	0.004482	1	0
TTF2	8458	broad.mit.edu	37	1	117617695	117617695	+	Silent	SNP	C	T	T	rs140361450		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:117617695C>T	uc001egy.3	+	4	509	c.489C>T	c.(487-489)ttC>ttT	p.F163F	TTF2_uc001egx.1_Silent_p.F163F	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	163					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.F163F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		ATCAGCTTTTCGATCAAAAGA	0.413000														62			18		0	0	0.004990	0	0
DCLK3	85443	broad.mit.edu	37	3	36759525	36759525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36759525G>A	uc003cgi.2	-	3	2220	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	577	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCAGTAAGGGGGGAGGAAC	0.542000														183			46		0	0	0.002852	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033919	100033919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100033919C>T	uc003uuy.1	-	0	176	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_145030	NP_659467	Q8TAP8	CG047_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 35 (PPP1R35), mRNA.	27	Pro-rich.																ACTTGGGGCTCCGGGGGTGGC	0.716000														21			13		0	0	0.001855	0	0
TCRBV3S1	0	broad.mit.edu	37	7	142428720	142428720	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142428720C>G	uc011ksk.1	+	1	97	c.80C>G	c.(79-81)tCg>tGg	p.S27W	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_5'UTR					SubName: Full=V_segment translation product; Flags: Fragment;																		ACCCAGAGCTCGAGATATCTA	0.448000														13			9		0	0	0.008291	0	0
PARP9	83666	broad.mit.edu	37	3	122247372	122247372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:122247372G>A	uc010hri.3	-	10	2549	c.2404C>T	c.(2404-2406)Cct>Tct	p.P802S	PARP9_uc003eff.4_Missense_Mutation_p.P767S|PARP9_uc011bjs.2_Missense_Mutation_p.P767S|PARP9_uc003efg.3_Missense_Mutation_p.P347S|PARP9_uc003efi.3_Missense_Mutation_p.P767S|PARP9_uc003efh.3_Missense_Mutation_p.P802S	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	802	PARP catalytic.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.P802S(2)		endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGGTTTCAGGGCTGGAGACA	0.463000														60			36		0	0	0.003755	0	0
NRP2	8828	broad.mit.edu	37	2	206608133	206608133	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:206608133G>A	uc002vaw.3	+	8	2289	c.1498G>A	c.(1498-1500)Ggt>Agt	p.G500S	NRP2_uc002vat.3_Missense_Mutation_p.G500S|NRP2_uc002vau.3_Missense_Mutation_p.G500S|NRP2_uc002vav.3_Missense_Mutation_p.G500S|NRP2_uc002vax.3_Missense_Mutation_p.G500S|NRP2_uc002vay.3_Missense_Mutation_p.G500S|NRP2_uc010fud.3_Missense_Mutation_p.G500S	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	500	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G500C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GACAGTGAAAGGTGTCATCAT	0.577000														56			27		0	0	0.006320	0	0
OR52N4	390072	broad.mit.edu	37	11	5776362	5776362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5776362C>T	uc001mbu.3	+	0	440	c.392C>T	c.(391-393)cCc>cTc	p.P131L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P131H(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		ATCTGCTACCCCTTACGCTAT	0.493000														86			46		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36896829	36896829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36896829G>A	uc003cgj.3	-	11	4500	c.4252C>T	c.(4252-4254)Ctc>Ttc	p.L1418F		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1418					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCCCCGTGAGGAACATAGAG	0.537000														169			54		0	0	0.003610	0	0
SATB1	6304	broad.mit.edu	37	3	18393664	18393664	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:18393664G>A	uc003cbh.3	-	9	3334	c.1599C>T	c.(1597-1599)cgC>cgT	p.R533R	SATB1_uc003cbi.3_Silent_p.R533R|SATB1_uc003cbj.3_Silent_p.R533R	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	533					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTTCTTTCCAGCGTAACAGCT	0.483000														49			10		0	0	0.006214	0	0
FAT3	120114	broad.mit.edu	37	11	92623991	92623991	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:92623991C>T	uc001pdj.4	+	24	13403	c.13386C>T	c.(13384-13386)ctC>ctT	p.L4462L	FAT3_uc001pdi.4_Silent_p.L934L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4494	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCAGTATCTCCCTCCTCACC	0.582000										TCGA Ovarian(4;0.039)				141			144		0	0	0.003610	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453052	64453052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:64453052G>A	uc011kdr.2	-	1	947	c.353C>T	c.(352-354)tCc>tTc	p.S118F	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.S118F	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	118						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						aaagtataaggatacgacatc	0.428000														25			16		0	0	0.004007	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062138	41062138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:41062138G>A	uc002ony.3	+	24	5319	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1745K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1745K|SPTBN4_uc010egx.3_Missense_Mutation_p.E488K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E421K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1745					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGATTGCCGAGAAGGAGGT	0.587000														18			6		0	0	0.001168	0	0
ARSH	347527	broad.mit.edu	37	X	2951252	2951252	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:2951252C>T	uc011mhj.2	+	8	1515	c.1515C>T	c.(1513-1515)tcC>tcT	p.S505S		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	505						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TATTTGACTCCGTGATCAAAA	0.488000														10			12		0	0	0.001368	0	0
COL5A2	1290	broad.mit.edu	37	2	189904059	189904059	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:189904059C>T	uc002uqk.3	-	50	4139	c.3864G>A	c.(3862-3864)tcG>tcA	p.S1288S	COL5A2_uc010frx.3_Silent_p.S864S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1288	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGTGCTTTTTCGAGCCATCGG	0.527000														52			31		0	0	0.002445	0	0
TBX10	347853	broad.mit.edu	37	11	67402535	67402535	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:67402535C>T	uc001omp.3	-	1	295	c.207G>A	c.(205-207)ctG>ctA	p.L69L		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	69					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						GCTTCATCTCCAGCTGAACTG	0.637000														32			21		0	0	0.002780	0	0
HRNR	388697	broad.mit.edu	37	1	152192045	152192045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152192045C>T	uc001ezt.1	-	2	2136	c.2060G>A	c.(2059-2061)aGc>aAc	p.S687N		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	687					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGCCATTGCTTGAAGACCA	0.582000														177			55		0	0	0.003610	0	0
ING4	51147	broad.mit.edu	37	12	6761506	6761506	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:6761506G>A	uc001qpw.4	-	5	620	c.579C>T	c.(577-579)ccC>ccT	p.P193P	ING4_uc001qpy.4_Silent_p.P189P|ING4_uc001qpx.4_Silent_p.P190P|ING4_uc009zes.3_Intron|ING4_uc009zet.3_Silent_p.P169P|ING4_uc009zeu.3_Intron|ING4_uc009zev.3_Non-coding_Transcript|ING4_uc001qpv.4_Silent_p.P192P	NM_001127582	NP_001121054	Q9UNL4	ING4_HUMAN	Homo sapiens inhibitor of growth family, member 4 (ING4), transcript variant 9, mRNA.	193					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|apoptosis|cell cycle arrest|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						TGGGTTCGTTGGGATCCACAG	0.512000														74			40		0	0	0.002222	0	0
IDS	3423	broad.mit.edu	37	X	148579812	148579812	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:148579812G>A	uc011mxe.2	-	4	751	c.534C>T	c.(532-534)ctC>ctT	p.L178L	IDS_uc011mxf.2_Silent_p.L88L|IDS_uc011mxg.2_5'UTR|IDS_uc010nsu.2_Intron|IDS_uc004fcw.4_5'UTR|IDS_uc011mxh.2_Silent_p.L178L|IDS_uc011mxi.2_Non-coding_Transcript	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	178						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGTTGGCATGGAGTTCTCCAT	0.458000														12			27		0	0	0.003954	0	0
FAM81B	153643	broad.mit.edu	37	5	94731827	94731827	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:94731827C>T	uc003kla.1	+	2	287	c.241C>T	c.(241-243)Cca>Tca	p.P81S	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	81										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAGATTATCTCCAGCCAAAAT	0.284000														61			31		0	0	0.002445	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625667	140625667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140625667C>T	uc003lje.3	+	0	521	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATATTTCTCCCAATTCTCAT	0.502000														13			21		0	0	0.008871	0	0
KRT71	112802	broad.mit.edu	37	12	52939383	52939383	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:52939383C>T	uc001sao.3	-	8	1396	c.1326_splice	c.e8-1	p.R442_splice		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	442	Tail.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTGACATCCTATTAAGGA	0.418000														31			26		0	0	0.007291	0	0
TTLL2	83887	broad.mit.edu	37	6	167754049	167754049	+	Missense_Mutation	SNP	G	A	A	rs142290843		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:167754049G>A	uc003qvs.1	+	2	749	c.661G>A	c.(661-663)Ggg>Agg	p.G221R		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	221	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCGTGGGAGGGGGATACTAAT	0.403000														32			32		0	0	0.002096	0	0
UNC13C	440279	broad.mit.edu	37	15	54307470	54307470	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:54307470G>A	uc021smr.1	+	0	2370	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	UNC13C_uc021sms.1_Silent_p.K790K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	790					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTCTGATAAGACTTTCAGCT	0.433000														16			9		0	0	0.004482	0	0
ANTXR2	118429	broad.mit.edu	37	4	80977168	80977168	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:80977168C>A	uc003hlz.4	-	4	1060	c.297_splice	c.e4-1	p.R99_splice	ANTXR2_uc003hly.4_Splice_Site_p.R99_splice|ANTXR2_uc003hlx.1_Splice_Site|ANTXR2_uc010ijn.3_Splice_Site_p.R99_splice	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.	99	VWFA.					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GATTTTGCCTCTGAAAATAAT	0.313000									Juvenile Hyaline Fibromatosis					8			6		3.59834e-05	6.47845e-05	0.001168	1	0
TCN1	6947	broad.mit.edu	37	11	59623456	59623456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:59623456C>T	uc001noj.2	-	5	921	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	275					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAGAAATTTCCGTGAGCACT	0.458000														95			24		0	0	0.005443	0	0
PIGG	54872	broad.mit.edu	37	4	515031	515031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:515031C>T	uc003gak.4	+	6	1437	c.1301C>T	c.(1300-1302)tCg>tTg	p.S434L	PIGG_uc003gaj.4_Missense_Mutation_p.S434L|PIGG_uc011bux.2_Intron|PIGG_uc010ibf.3_Missense_Mutation_p.S301L|PIGG_uc003gal.4_Missense_Mutation_p.S345L|PIGG_uc011buw.2_Intron|PIGG_uc003gam.3_Intron|PIGG_uc003gan.3_Missense_Mutation_p.S345L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	434					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						GACATCTATTCGATGATGGTG	0.488000														29			11		0	0	0.000978	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967671	161967671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:161967671G>A	uc010pkq.2	-	5	1845	c.1421C>T	c.(1420-1422)aCc>aTc	p.T474I	OLFML2B_uc001gbu.3_Missense_Mutation_p.T473I	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	473										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCTGGCAGGGGTTGTTCCCCA	0.562000														177			56		0	0	0.003610	0	0
OR5K4	403278	broad.mit.edu	37	3	98073564	98073564	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98073564G>A	uc011bgv.2	+	0	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTTATAGTCTGAGAAATAAGG	0.264000														189			72		0	0	0.003610	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113719	117113719	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:117113719G>A	uc003pxj.1	-	5	2389	c.2367C>T	c.(2365-2367)ctC>ctT	p.L789L	GPRC6A_uc003pxk.1_Silent_p.L614L|GPRC6A_uc003pxl.1_Silent_p.L718L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	789					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGAAGTAAATGAGCATGCCAA	0.363000														18			24		0	0	0.003330	0	0
RBM11	54033	broad.mit.edu	37	21	15599315	15599315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:15599315G>A	uc002yjo.4	+	4	589	c.547G>A	c.(547-549)Gga>Aga	p.G183R	RBM11_uc002yjn.4_Missense_Mutation_p.G69R|RBM11_uc002yjp.4_Missense_Mutation_p.G69R	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	183							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCTTGAGGCTGGACCCAGCTC	0.458000														197			99		0	0	0.003610	0	0
TRPM5	29850	broad.mit.edu	37	11	2443453	2443453	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:2443453C>T	uc010qxl.2	-	1	225	c.216G>A	c.(214-216)gtG>gtA	p.V72V	TRPM5_uc001lwm.4_Silent_p.V72V|TRPM5_uc009ydn.3_Silent_p.V72V	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	72						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCCTCACCCACCAGGGACA	0.662000														161			79		0	0	0.003610	0	0
ST18	9705	broad.mit.edu	37	8	53049210	53049210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:53049210C>T	uc003xqz.2	-	13	2396	c.2240G>A	c.(2239-2241)gGa>gAa	p.G747E	ST18_uc011ldq.1_Missense_Mutation_p.G394E|ST18_uc011ldr.1_Missense_Mutation_p.G712E|ST18_uc011lds.1_Missense_Mutation_p.G652E|ST18_uc003xra.2_Missense_Mutation_p.G747E	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	747						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TAAAGGACATCCAGAAACACT	0.448000														20			8		0	0	0.008291	0	0
TRPM2	7226	broad.mit.edu	37	21	45855045	45855045	+	Missense_Mutation	SNP	C	T	T	rs143528384		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45855045C>T	uc010gpt.1	+	28	4256	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	TRPM2_uc002zet.1_Missense_Mutation_p.R1336C|TRPM2_uc002zeu.1_Missense_Mutation_p.R1336C|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R1336C|TRPM2_uc002zex.1_Missense_Mutation_p.R1122C|TRPM2_uc002zey.1_Missense_Mutation_p.R815C|TRPM2_uc011aff.1_Missense_Mutation_p.R17C	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1336	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R1336C(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACTGCGTGGGCGCGGGAGCCT	0.667000														74			23		0	0	0.005443	0	0
MARCO	8685	broad.mit.edu	37	2	119739969	119739969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:119739969G>A	uc002tln.1	+	11	1178	c.1046G>A	c.(1045-1047)gGa>gAa	p.G349E	MARCO_uc010yyf.1_Missense_Mutation_p.G271E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	349	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G349R(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGCCTGAAAGGAAGCAAAGGG	0.572000														109			59		0	0	0.003610	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027344	55027344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:55027344G>A	uc002lgn.3	+	3	1336	c.979G>A	c.(979-981)Gac>Aac	p.D327N		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	327					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTTGGATTTGACCCCAACAC	0.448000														54			23		0	0	0.004656	0	0
CFH	3075	broad.mit.edu	37	1	196648791	196648791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196648791C>T	uc001gtj.4	+	5	898	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CFH_uc001gti.4_Missense_Mutation_p.P220S|CFH_uc009wyw.3_Missense_Mutation_p.P220S|CFH_uc009wyx.3_Missense_Mutation_p.P156S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	220	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGGATCTCCTATATCTCA	0.318000														52			28		0	0	0.007291	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490887	141490887	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141490887C>T	uc003vwr.1	+	0	871	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	242					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					CCTTCTCCATCACCTCCAAGA	0.517000														119			58		0	0	0.003610	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445350	87445350	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:87445350T>A	uc002fjz.1	-	11	2593	c.2566A>T	c.(2566-2568)Agc>Tgc	p.S856C	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.S632C	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	856					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTCCCGCTGCTGCTGTAAGGG	0.657000														20			18		0	0	0.008871	0	0
BCR	613	broad.mit.edu	37	22	23523851	23523851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:23523851C>T	uc002zww.3	+	0	1300	c.704C>T	c.(703-705)tCc>tTc	p.S235F	BCR_uc002zwx.3_Missense_Mutation_p.S235F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	235	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGGGGACGCTCCTCGGAGAGC	0.672000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									37			22		0	0	0.003330	0	0
PTX4	390667	broad.mit.edu	37	16	1537480	1537480	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:1537480C>T	uc010uvf.2	-	1	618	c.618G>A	c.(616-618)caG>caA	p.Q206Q		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	211						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCGGAGCTCCTGCCTGTCCC	0.711000														30			5		0	0	0.001984	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666382	45666382	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45666382C>T	uc002zeg.1	-	11	1543	c.1059G>A	c.(1057-1059)tcG>tcA	p.S353S	DNMT3L_uc002zeh.1_Silent_p.S354S	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	353					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCGCGAGCTTCGAGCTCTGCT	0.522000														42			24		0	0	0.002780	0	0
SBF1	6305	broad.mit.edu	37	22	50894674	50894674	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:50894674A>C	uc003blh.3	-	30	4432	c.4237T>G	c.(4237-4239)Tca>Gca	p.S1413A	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Missense_Mutation_p.S1051A	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1387	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TCCTCCAGTGAGCGCAGGAAG	0.642000														18			9		0	0	0.000978	0	0
CCDC73	493860	broad.mit.edu	37	11	32624400	32624400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:32624400C>T	uc001mtv.3	-	17	3241	c.3197G>A	c.(3196-3198)aGa>aAa	p.R1066K		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	1066										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCTGCTTTTCTTTTCTTTGG	0.308000														25			6		0	0	0.001984	0	0
CENPF	1063	broad.mit.edu	37	1	214818958	214818958	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:214818958C>T	uc001hkm.3	+	12	6219	c.6045C>T	c.(6043-6045)ctC>ctT	p.L2015L		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2111					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGACGGAACTCCTTCAGACTT	0.443000														91			28		0	0	0.007291	0	0
PTPN14	5784	broad.mit.edu	37	1	214557534	214557534	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:214557534G>C	uc001hkk.2	-	12	2317	c.1664C>G	c.(1663-1665)aCg>aGg	p.T555R	PTPN14_uc021piy.1_Missense_Mutation_p.T319R|PTPN14_uc010pty.2_Missense_Mutation_p.T456R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637000														87			28		0	0	0.005443	0	0
TRBV9	28586	broad.mit.edu	37	7	142239685	142239685	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142239685G>A	uc011ksd.2	-	1	206	c.195C>T	c.(193-195)ctC>ctT	p.L65L	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TRBV9_uc022ann.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AATACTGAATGAGGAACTGGA	0.502000														35			28		0	0	0.006320	0	0
XIRP2	129446	broad.mit.edu	37	2	168105286	168105286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168105286G>A	uc002udx.3	+	8	7473	c.7384G>A	c.(7384-7386)Gat>Aat	p.D2462N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D2287N|XIRP2_uc010fpq.3_Missense_Mutation_p.D2240N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2287					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TACCTCAAAGGATCAGAAAAA	0.363000														73			27		0	0	0.004656	0	0
UNC5D	137970	broad.mit.edu	37	8	35406874	35406874	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:35406874C>T	uc003xjr.2	+	1	496	c.168C>T	c.(166-168)ttC>ttT	p.F56F	UNC5D_uc003xjs.2_Silent_p.F51F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	56	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity	p.D56D(1)|p.P55T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCCTCATTTCATAGAGGAGC	0.483000														25			24		0	0	0.004656	0	0
SPAG17	200162	broad.mit.edu	37	1	118571014	118571014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:118571014C>T	uc001ehk.2	-	25	3681	c.3613G>A	c.(3613-3615)Gaa>Aaa	p.E1205K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1205						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTACTTCTTCTTCCTGTAAA	0.408000														73			29		0	0	0.002836	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957604	52957604	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:52957604C>T	uc001wzs.3	-	9	1325	c.876G>A	c.(874-876)tgG>tgA	p.W292*	TXNDC16_uc010tqu.2_Nonsense_Mutation_p.W287*|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	292					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCCAAGCAACCCATTCTGCAG	0.393000														78			17		0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	167760074	167760074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:167760074C>T	uc002udx.3	+	1	171	c.82C>T	c.(82-84)Ccc>Tcc	p.P28S	XIRP2_uc010fpn.3_Missense_Mutation_p.P28S|XIRP2_uc010fpo.3_Missense_Mutation_p.P28S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGTGTCATCCCAGGGACAG	0.498000														34			31		0	0	0.002836	0	0
TCF20	6942	broad.mit.edu	37	22	42608208	42608208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:42608208G>A	uc003bcj.1	-	0	3238	c.3104C>T	c.(3103-3105)cCa>cTa	p.P1035L	TCF20_uc003bck.1_Missense_Mutation_p.P1035L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1035					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTCATGTGTGGATTCATGTG	0.502000														41			15		0	0	0.006122	0	0
PLEK2	26499	broad.mit.edu	37	14	67859137	67859137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:67859137C>T	uc001xjh.1	-	5	729	c.677G>A	c.(676-678)aGc>aAc	p.S226N		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	226					actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		CTTTTTGTAGCTCTCAGCCTA	0.537000														66			30		0	0	0.003271	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265946	3265946	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:3265946C>T	uc010uwv.2	+	0	385	c.237C>T	c.(235-237)ttC>ttT	p.F79F						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		TGGACAATTTCCTCCTGGCTG	0.512000														31			26		0	0	0.003330	0	0
CRELD1	78987	broad.mit.edu	37	3	9984504	9984504	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:9984504T>C	uc003buf.3	+	7	840	c.741T>C	c.(739-741)gaT>gaC	p.D247D	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Silent_p.D247D|CRELD1_uc003bug.3_Silent_p.D247D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	247					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGACATTGATGAGTGTGGCA	0.522000														97			33		0	0	0.006230	0	0
SCN10A	6336	broad.mit.edu	37	3	38770119	38770119	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38770119C>T	uc003ciq.3	-	14	2554	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	852					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACATGTTCTCAATCCACTCT	0.522000														36			10		0	0	0.006214	0	0
TRIOBP	11078	broad.mit.edu	37	22	38122340	38122340	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38122340G>A	uc003atr.3	+	6	4048	c.3777G>A	c.(3775-3777)ggG>ggA	p.G1259G	TRIOBP_uc003atu.3_Silent_p.G1087G|TRIOBP_uc003atq.1_Silent_p.G1259G|TRIOBP_uc003ats.1_Silent_p.G1087G	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	1259					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGCCTCCCGGGGAGACCAGGC	0.716000														27			11		0	0	0.001368	0	0
COL5A3	50509	broad.mit.edu	37	19	10112520	10112520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:10112520G>A	uc002mmq.1	-	6	973	c.887C>T	c.(886-888)cCa>cTa	p.P296L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	296	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGGCAGATTTGGAGCTGGAGT	0.582000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			30		0	0	0.003271	0	0
ADAM18	8749	broad.mit.edu	37	8	39535009	39535009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39535009G>A	uc003xni.3	+	14	1640	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.E505K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	529	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TGAAAGATCTGAAAACTGTGG	0.303000														43			15		0	0	0.006122	0	0
PYGM	5837	broad.mit.edu	37	11	64525340	64525340	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64525340C>T	uc001oax.4	-	4	1388	c.571G>A	c.(571-573)Gag>Aag	p.E191K	PYGM_uc001oay.4_Missense_Mutation_p.E103K	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	191					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CGGGCCTTCTCCCAGGGGTTG	0.607000														40			21		0	0	0.002299	0	0
DHX37	57647	broad.mit.edu	37	12	125453429	125453429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:125453429G>A	uc001ugy.3	-	8	1376	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	426	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GACCGGCGGCGGCTTGGCGAA	0.617000														7			13		0	0	0.002450	0	0
OR52L1	338751	broad.mit.edu	37	11	6008152	6008152	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6008152C>T	uc001mcd.2	-	0	64	c.9G>A	c.(7-9)ttG>ttA	p.L3L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L2L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGAAACCAAAGTCATGA	0.433000														61			21		0	0	0.003330	0	0
KRT10	3858	broad.mit.edu	37	17	38978755	38978755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:38978755C>T	uc002hvi.3	-	0	109	c.83G>A	c.(82-84)gGa>gAa	p.G28E	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	28	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis	p.G28V(2)		NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CActcctcctcctcctccaca	0.552000														29			12		0	0	0.000978	0	0
KCNG4	93107	broad.mit.edu	37	16	84256623	84256623	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:84256623C>T	uc010voc.2	-	2	881	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	254						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGAGAGCATTCGCCCTGCGGG	0.557000														16			5		0	0	0.000602	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997226	82997226	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:82997226G>A	uc003uhy.2	-	16	2625	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	SEMA3E_uc022agy.1_Silent_p.I608I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	668	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCCAAGGTGATTTTACGGA	0.468000														55			32		0	0	0.002096	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499424	39499424	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:39499424C>T	uc002rro.3	-	26	2064	c.1973_splice	c.e26+1	p.R658_splice	MAP4K3_uc002rrp.3_Splice_Site_p.R637_splice|MAP4K3_uc010yns.2_Splice_Site_p.R211_splice	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	658	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GTACCCTTACCTTGGCAGTAT	0.353000														44			24		0	0	0.008361	0	0
KCNS2	3788	broad.mit.edu	37	8	99441446	99441446	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:99441446C>T	uc003yin.3	+	1	1589	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	KCNS2_uc022azb.1_Silent_p.F413F	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	413						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCAATAAGTTCTCCCACTTTT	0.542000														113			50		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318261	30318261	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:30318261C>T	uc009xle.2	-	2	953	c.816G>A	c.(814-816)acG>acA	p.T272T	KIAA1462_uc001iux.3_Silent_p.T272T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.T134T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	272	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGAATTCCTCGTGGAGTCCA	0.527000														50			23		0	0	0.002299	0	0
CCDC147	159686	broad.mit.edu	37	10	106163510	106163510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:106163510G>A	uc001kyh.3	+	13	2197	c.2063G>A	c.(2062-2064)aGa>aAa	p.R688K		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	688										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CACATGCAAAGAGAATTGTTG	0.438000														16			9		0	0	0.004482	0	0
OR4D10	390197	broad.mit.edu	37	11	59245604	59245604	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:59245604G>A	uc001nnz.1	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGGGCAGGAGGAAAGCCATCT	0.547000														74			52		0	0	0.003610	0	0
FAM136A	84908	broad.mit.edu	37	2	70528059	70528059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:70528059C>T	uc002sgq.4	-	1	218	c.141G>A	c.(139-141)atG>atA	p.M47I	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	47						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCACCTGCTTCATGGAGGCCT	0.582000														74			40		0	0	0.007835	0	0
PREX2	80243	broad.mit.edu	37	8	68931862	68931862	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68931862G>A	uc003xxv.1	+	2	319	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	PREX2_uc003xxu.1_Missense_Mutation_p.E98K|PREX2_uc011lez.1_Intron	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	98	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTACACCCCGAACCTAATGC	0.328000														27			16		0	0	0.003163	0	0
HBG1	3047	broad.mit.edu	37	11	5275566	5275566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5275566C>T	uc001mai.1	-	1	708	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.E91K	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	91					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGCAGTTCACTCAGCTGG	0.507000														137			20		0	0	0.002780	0	0
TANC1	85461	broad.mit.edu	37	2	160076290	160076291	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:160076290_160076291TG>AT	uc002uag.3	+	21	3864_3865	c.3590_3591TG>AT	c.(3589-3591)ctg>cAT	p.L1197H	TANC1_uc010zcm.2_Missense_Mutation_p.L1189H|TANC1_uc010fom.1_Missense_Mutation_p.L1003H|TANC1_uc010fon.3_Missense_Mutation_p.L41H	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1197						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTCCAGTATCTGGTTGAAGAAG	0.530000														57			22		0	0	0.004672	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760963	6760963	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6760963G>A	uc002mft.3	-	2	299	c.105C>T	c.(103-105)ttC>ttT	p.F35F	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	35	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CGCGAACCAGGAAGTCGCCAT	0.597000														42			14		0	0	0.004990	0	0
DOCK3	1795	broad.mit.edu	37	3	51418498	51418498	+	Silent	SNP	C	T	T	rs35115622		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:51418498C>T	uc011bds.2	+	52	5624	c.5601C>T	c.(5599-5601)atC>atT	p.I1867I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1867						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCACCCTATCCCAGCCTCCC	0.602000														98			41		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158589991	158589991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158589991C>T	uc001fst.1	-	43	6585	c.6386G>A	c.(6385-6387)aGg>aAg	p.R2129K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2129					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCCAGGTCCTTTCCAGCAC	0.448000														161			49		0	0	0.003610	0	0
KIAA0494	9813	broad.mit.edu	37	1	47155322	47155322	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47155322G>A	uc001cqk.4	-	5	1709	c.732C>T	c.(730-732)atC>atT	p.I244I	KIAA0494_uc010omh.1_Silent_p.I244I|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Silent_p.I100I	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	244							calcium ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					GTGACGGAATGATCTGGTTGC	0.413000														76			34		0	0	0.005524	0	0
UPF1	5976	broad.mit.edu	37	19	18971672	18971672	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:18971672T>C	uc002nkg.3	+	16	2646	c.2371T>C	c.(2371-2373)Ttg>Ctg	p.L791L	UPF1_uc002nkf.3_Silent_p.L780L|UPF1_uc002nkh.3_Silent_p.L35L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	791					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CACCACGAAGTTGCTGAAGGC	0.622000														21			6		0	0	0.001168	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550412	2550412	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2550412C>T	uc002cql.3	+	6	1586	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	TBC1D24_uc002cqk.3_Silent_p.F476F|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Non-coding_Transcript	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	482	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCTCGCCCTTCCTGGCCGCTC	0.697000														9			5		0	0	0.001168	0	0
ODZ3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183600989G>A	uc003ivd.1	+	6	1572	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	499					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATAATGATGGGAAAAATGCAG	0.448000														22			11		0	0	0.000978	0	0
EEPD1	80820	broad.mit.edu	37	7	36194506	36194506	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:36194506C>T	uc003tfa.3	+	1	1213	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	191					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGACAGGATCCGGCACCAGG	0.627000														51			18		0	0	0.001523	0	0
POMT1	10585	broad.mit.edu	37	9	134385344	134385344	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:134385344C>T	uc004cav.3	+	7	862	c.660C>T	c.(658-660)gtC>gtT	p.V220V	POMT1_uc011mci.1_3'UTR|POMT1_uc004cax.3_Silent_p.V220V|POMT1_uc011mcj.2_Intron|POMT1_uc004cau.3_Silent_p.V220V|POMT1_uc004caw.3_Silent_p.V166V|POMT1_uc011mck.2_Silent_p.V103V|POMT1_uc011mcl.2_Silent_p.V68V|POMT1_uc011mcm.2_Silent_p.V190V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	220					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCTGTCCATGCCTGGC	0.522000														54			40		0	0	0.003610	0	0
NDST4	64579	broad.mit.edu	37	4	115997241	115997241	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:115997241T>C	uc003ibu.3	-	1	1631	c.952A>G	c.(952-954)Aca>Gca	p.T318A	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	318	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G317V(1)|p.G317R(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCATCCTTGTTCCCTCTTTC	0.363000														43			37		0	0	0.006230	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675461	31675461	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31675461G>T	uc003nwb.1	+	1	279	c.279G>T	c.(277-279)ttG>ttT	p.L93F	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L93F	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	93	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTTTGTGGTTGGAGGGATCCA	0.582000														577			11		0.00136819	0.00245836	0.001368	1	0
RDBP	7936	broad.mit.edu	37	6	31922493	31922493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31922493C>T	uc003nyk.3	-	6	785	c.581G>A	c.(580-582)aGg>aAg	p.R194K	RDBP_uc011dot.2_Missense_Mutation_p.R164K|RDBP_uc021yvb.1_Missense_Mutation_p.R189K	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	194	30 X 2 AA approximate tandem repeats of R-[DSNE].				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						gtcccggttcctctcATGGCT	0.647000														391			131		0	0	0.003610	0	0
OR12D2	26529	broad.mit.edu	37	6	29364748	29364748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:29364748C>T	uc003nmf.4	+	0	333	c.272C>T	c.(271-273)tCt>tTt	p.S91F		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AAAGCAATTTCTTTCTTGGGA	0.473000														81			25		0	0	0.004656	0	0
ZNF43	7594	broad.mit.edu	37	19	21990825	21990825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:21990825G>A	uc002nqj.3	-	3	2144	c.2014C>T	c.(2014-2016)Cat>Tat	p.H672Y	ZNF43_uc002nql.3_Missense_Mutation_p.H666Y|ZNF43_uc002nqm.3_Missense_Mutation_p.H666Y|ZNF43_uc010ecv.3_Missense_Mutation_p.H666Y|ZNF43_uc002nqk.3_Missense_Mutation_p.H602Y	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	672					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTATGAATTATCTTA	0.368000														23			13		0	0	0.001855	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669124	44669124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:44669124C>T	uc010zxl.1	+	6	870	c.794C>T	c.(793-795)gCc>gTc	p.A265V	SLC12A5_uc002xra.2_Missense_Mutation_p.A242V|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A242V	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	265					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACCTGCATGGCCACTGTGGTG	0.547000														35			17		0	0	0.006122	0	0
ODZ2	57451	broad.mit.edu	37	5	167420048	167420048	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:167420048C>T	uc010jjd.3	+	4	1047	c.1047C>T	c.(1045-1047)ccC>ccT	p.P349P	ODZ2_uc021yhi.1_Silent_p.P279P|ODZ2_uc003lzq.2_Silent_p.P228P|ODZ2_uc003lzr.4_Silent_p.P158P	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGCCCCCGCCCCGCCTGCTGC	0.587000														33			23		0	0	0.004656	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:108315580C>T	uc003ymn.3	-	4	1292	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G75E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G274E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G74E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	275					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000														60			20		0	0	0.002299	0	0
NRXN1	9378	broad.mit.edu	37	2	51254950	51254950	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:51254950G>A	uc021vhh.1	-	0	1383	c.462C>T	c.(460-462)ttC>ttT	p.F154F	NRXN1_uc021vhg.1_Silent_p.F154F|NRXN1_uc021vhi.1_Silent_p.F154F|NRXN1_uc021vhj.1_Silent_p.F154F|NRXN1_uc021vhk.1_Silent_p.F154F	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	154	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G153V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCCCCCGACGAAAAGGCCGC	0.662000														15			9		0	0	0.004482	0	0
ADAM23	8745	broad.mit.edu	37	2	207432007	207432007	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:207432007G>A	uc002vbq.3	+	14	1678	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	485	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		ACTTTTTACAGAGAGGAGGTG	0.363000														63			31		0	0	0.003271	0	0
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	T	T	rs115438249	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:54191661C>T	uc003pcj.2	+	3	717	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(2)|p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373000														58			17		0	0	0.001523	0	0
PRB2	653247	broad.mit.edu	37	12	11546770	11546770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:11546770G>A	uc010shk.1	-	2	277	c.242C>T	c.(241-243)cCa>cTa	p.P81L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGGGGTGGTCCTTGTGG	0.612000														209			62		0	0	0.003610	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157129	26157129	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:26157129C>T	uc022bub.1	+	0	27	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MAGEB18_uc004dbq.2_Silent_p.L9L	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	9							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGAGTAAGCTCCGTGCCCGTG	0.542000														5			7		0	0	0.003080	0	0
SRBD1	55133	broad.mit.edu	37	2	45620195	45620195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:45620195G>A	uc002rus.3	-	19	2663	c.2587C>T	c.(2587-2589)Ctt>Ttt	p.L863F	SRBD1_uc010yoc.2_Missense_Mutation_p.L382F	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	863					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCCTTTTCAAGGAATGAATTT	0.393000														70			39		0	0	0.005524	0	0
OR5B2	390190	broad.mit.edu	37	11	58189847	58189847	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58189847C>T	uc010rkg.2	-	0	940	c.888G>A	c.(886-888)caG>caA	p.Q296Q		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGAATGCATTCTGGACTTCTC	0.403000														52			21		0	0	0.002780	0	0
LOC645166	645166	broad.mit.edu	37	1	148932876	148932876	+	RNA	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:148932876G>A	uc010pbc.1	+	1		c.191G>A			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GTGGGAGACGGGTGAGGTACA	0.632000														161			10		0	0	0.008291	0	0
LYST	1130	broad.mit.edu	37	1	235922487	235922487	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:235922487G>A	uc001hxj.2	-	22	6841	c.6666C>T	c.(6664-6666)tcC>tcT	p.S2222S	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2222					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCGTGGGCAGGACTCATCCC	0.527000														54			26		0	0	0.005443	0	0
GABRG1	2565	broad.mit.edu	37	4	46067502	46067502	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:46067502C>T	uc003gxb.3	-	3	573	c.421G>A	c.(421-423)Gga>Aga	p.G141R		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.G141E(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAAATTTTTCCAACCATATTA	0.348000														39			18		0	0	0.008871	0	0
FNBP1L	54874	broad.mit.edu	37	1	93988993	93988993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:93988993G>A	uc010otk.2	+	3	438	c.287G>A	c.(286-288)aGa>aAa	p.R96K	FNBP1L_uc001dpv.3_Missense_Mutation_p.R96K|FNBP1L_uc001dpw.3_Missense_Mutation_p.R96K	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	96	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		ATGGCGCACAGAGTGTATGGT	0.348000														24			9		0	0	0.008291	0	0
C8B	732	broad.mit.edu	37	1	57411683	57411683	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57411683G>A	uc001cyp.3	-	6	983	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	C8B_uc010oon.2_Silent_p.L244L|C8B_uc010ooo.2_Silent_p.L254L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	306	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTGGGTTTCAGCTTGTAATGT	0.458000														42			27		0	0	0.004656	0	0
OR6K3	391114	broad.mit.edu	37	1	158687447	158687447	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158687447G>A	uc021pbn.1	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GCAGGATAAGGAAACCGAAGA	0.512000														109			26		0	0	0.004656	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	T	T	rs143879959		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147914416G>T	uc003weu.2	+	18	3563	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1016					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1016Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTACGATATAACTTT	0.488000										HNSCC(39;0.1)				84			45		1.00953e-15	1.82612e-15	0.003214	1	0
NFXL1	152518	broad.mit.edu	37	4	47887673	47887673	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:47887673G>A	uc010igh.3	-	14	1842	c.1665_splice	c.e14-1	p.S555_splice	NFXL1_uc003gxp.3_Splice_Site_p.S555_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.S555_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	555						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GTTGGTGGTCGACTAAATCAT	0.318000														42			21		0	0	0.002299	0	0
DNAH8	1769	broad.mit.edu	37	6	38917234	38917234	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38917234C>A	uc021yzh.1	+	80	12245	c.12136C>A	c.(12136-12138)Cgt>Agt	p.R4046S	DNAH8_uc003ooe.2_Missense_Mutation_p.R3829S|DNAH8_uc003oog.1_Missense_Mutation_p.R278S|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTAGATATCTCGTAATGAGAA	0.378000														285			7		0.00198382	0.00356213	0.001984	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110477252	110477252	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110477252C>T	uc003yne.3	+	48	8295	c.8191C>T	c.(8191-8193)Cca>Tca	p.P2731S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2731					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTGGTTCTCCCATTTAGTGA	0.453000										HNSCC(38;0.096)				123			59		0	0	0.003610	0	0
C10orf71	118461	broad.mit.edu	37	10	50530730	50530730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:50530730C>T	uc021pqb.1	+	0	140	c.140C>T	c.(139-141)tCc>tTc	p.S47F	C10orf71_uc021pqa.1_Missense_Mutation_p.S46F|C10orf71_uc021pqc.1_Missense_Mutation_p.S47F	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	47										endometrium(1)	1						GAGGACACATCCTTCCATGAC	0.567000														10			6		0	0	0.001168	0	0
RANBP10	57610	broad.mit.edu	37	16	67768907	67768907	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:67768907C>T	uc002eud.3	-	5	746	c.630G>A	c.(628-630)ggG>ggA	p.G210G	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Silent_p.G154G|RANBP10_uc010vjv.2_Silent_p.G93G|RANBP10_uc010vjx.1_Silent_p.G210G|RANBP10_uc010vjy.1_Silent_p.G78G	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	210	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCACAATCTCCCCAGGTGTCT	0.597000														45			22		0	0	0.002780	0	0
ZIC4	84107	broad.mit.edu	37	3	147113707	147113707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:147113707G>A	uc011bno.2	-	2	956	c.770C>T	c.(769-771)cCt>cTt	p.P257L	ZIC4_uc003ewc.2_Missense_Mutation_p.P137L|ZIC4_uc021xff.1_Missense_Mutation_p.P245L|ZIC4_uc003ewd.2_Missense_Mutation_p.P207L|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	207						nucleus	DNA binding|zinc ion binding	p.H256Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CCCCGGGAAAGGACAAGGGAA	0.527000														75			52		0	0	0.003610	0	0
TMEM40	55287	broad.mit.edu	37	3	12779254	12779254	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:12779254C>T	uc011auv.1	-	8	640	c.473_splice	c.e8-1	p.G158_splice	TMEM40_uc003bxg.1_Splice_Site_p.G142_splice|TMEM40_uc003bxh.1_Splice_Site_p.G112_splice	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	142						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCACTTCTCCTTAAGAACAA	0.403000														68			16		0	0	0.004990	0	0
REG3A	5068	broad.mit.edu	37	2	79385460	79385460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:79385460G>A	uc002sod.2	-	2	673	c.325C>T	c.(325-327)Ccc>Tcc	p.P109S	REG3A_uc002soe.2_Missense_Mutation_p.P109S|REG3A_uc002sof.2_Missense_Mutation_p.P109S	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	109	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.P109T(2)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACCTGTGTGGGGTCATGGAGC	0.572000														38			18		0	0	0.008871	0	0
OR5K3	403277	broad.mit.edu	37	3	98110314	98110314	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98110314G>A	uc011bgw.2	+	0	805	c.805G>A	c.(805-807)Gat>Aat	p.D269N		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AGGGGATAAAGATATACCTGT	0.299000														39			12		0	0	0.001368	0	0
LRFN2	57497	broad.mit.edu	37	6	40400163	40400163	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:40400163G>A	uc003oph.1	-	1	1155	c.690C>T	c.(688-690)ccC>ccT	p.P230P		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	230						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGGGGCAAAGGGTGTGGCTG	0.587000														74			22		0	0	0.001523	0	0
FAM49A	81553	broad.mit.edu	37	2	16740731	16740731	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:16740731G>A	uc010exm.2	-	8	982	c.834C>T	c.(832-834)atC>atT	p.I278I	FAM49A_uc002rck.2_Silent_p.I278I	NM_030797	NP_110424	Q9H0Q0	FA49A_HUMAN	Homo sapiens family with sequence similarity 49, member A (FAM49A), mRNA.	278						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			TTCTTACATCGATCTTGGATG	0.483000														74			20		0	0	0.002299	0	0
CDK10	8558	broad.mit.edu	37	16	89761730	89761730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89761730C>T	uc010cio.3	+	11	1005	c.962C>T	c.(961-963)tCc>tTc	p.S321F	CDK10_uc002fod.3_Missense_Mutation_p.S250F|CDK10_uc002foe.3_Missense_Mutation_p.S250F|CDK10_uc002fof.3_Missense_Mutation_p.S244F|CDK10_uc002fog.4_Missense_Mutation_p.S250F|CDK10_uc002foh.4_Missense_Mutation_p.S250F|CDK10_uc002foi.3_Non-coding_Transcript	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	321	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CTGGAGAGCTCCTATTTCAAG	0.642000														86			45		0	0	0.003610	0	0
SPPL2B	56928	broad.mit.edu	37	19	2353125	2353125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:2353125G>A	uc002lvs.3	+	15	1774	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	SPPL2B_uc002lvr.3_3'UTR	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	566						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCATGCGGGAGCCTGGG	0.711000														21			13		0	0	0.001368	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43678511	43678511	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:43678511C>T	uc001zro.3	+	8	1237	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	TUBGCP4_uc001zrn.3_Missense_Mutation_p.R333C|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	333					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	p.R333C(2)		breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GGATCGCATTCGCAGCACTGT	0.358000														54			29		0	0	0.001786	0	0
LOC646214	646214	broad.mit.edu	37	15	21937143	21937143	+	RNA	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:21937143A>G	uc010tzj.1	-	0		c.3597T>C								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CACATCAGTGAGTGACCCCCT	0.418000														145			17		0	0	0.004007	0	0
NPAS4	266743	broad.mit.edu	37	11	66191412	66191412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:66191412C>T	uc001ohx.1	+	6	1227	c.1051C>T	c.(1051-1053)Ctt>Ttt	p.L351F	NPAS4_uc010rpc.1_Missense_Mutation_p.L141F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	351					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGAAAACATTCTTTCCCAGGA	0.577000														158			68		0	0	0.003610	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145756229	145756229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:145756229C>T	uc003zds.1	-	11	3562	c.3007G>A	c.(3007-3009)Gag>Aag	p.E1003K	C8orf82_uc003zdp.1_5'Flank|C8orf82_uc003zdq.1_5'Flank|ARHGAP39_uc011llk.1_Missense_Mutation_p.E972K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E972K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	972	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCCTCCAGCTCCCGGTACCAC	0.721000														22			32		0	0	0.003755	0	0
OR4M2	390538	broad.mit.edu	37	15	22369287	22369287	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22369287G>C	uc010tzu.2	+	0	810	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACCAACAGGGCCATGTCCAC	0.453000														165			35		0	0	0.002522	0	0
RNF213	57674	broad.mit.edu	37	17	78320345	78320345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:78320345C>T	uc002jyh.2	+	29	8500	c.8357C>T	c.(8356-8358)cCt>cTt	p.P2786L	RNF213_uc021uen.1_Missense_Mutation_p.P2737L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACGGCGTACCTCTGAGGAAA	0.527000														52			18		0	0	0.006122	0	0
LEPR	3953	broad.mit.edu	37	1	66102394	66102394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:66102394G>A	uc001dci.3	+	19	3583	c.3194G>A	c.(3193-3195)gGa>gAa	p.G1065E	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1065					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AAATTGGAGGGAAATTTCCCT	0.373000														131			63		0	0	0.003610	0	0
IL6R	3570	broad.mit.edu	37	1	154401774	154401774	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:154401774G>A	uc001fez.2	+	1	625	c.188G>A	c.(187-189)aGg>aAg	p.R63K	IL6R_uc021paf.1_Missense_Mutation_p.R63K|IL6R_uc001ffa.2_Missense_Mutation_p.R63K	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	63	Ig-like C2-type.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGCTCAGGAAGCCGGCT	0.632000														75			12		0	0	0.000978	0	0
DPYSL5	56896	broad.mit.edu	37	2	27167571	27167571	+	Silent	SNP	C	T	T	rs77299668	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:27167571C>T	uc002rhu.4	+	11	1646	c.1488C>T	c.(1486-1488)gtC>gtT	p.V496V	DPYSL5_uc002rhv.4_Silent_p.V496V|DPYSL5_uc021vev.1_Silent_p.V496V	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	496					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.D495Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGGGGATGTCGCTGTTGTCG	0.572000														64			31		0	0	0.002445	0	0
C1orf106	55765	broad.mit.edu	37	1	200880599	200880599	+	Silent	SNP	G	A	A	rs151014082		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:200880599G>A	uc001gvo.3	+	8	1275	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	C1orf106_uc010ppm.2_Silent_p.A326A	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	411										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTTCCGGGCGGGTCCTGAGG	0.642000														168			157		0	0	0.003610	0	0
SLC22A1	6580	broad.mit.edu	37	6	160560703	160560703	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:160560703C>T	uc003qtc.3	+	6	1185	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	SLC22A1_uc003qtd.3_Silent_p.L360L	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	360						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACTCTGTGCTCTATCAGGGGC	0.522000														30			18		0	0	0.001882	0	0
CHRNG	1146	broad.mit.edu	37	2	233410255	233410255	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:233410255G>A	uc002vsx.1	+	11	1404	c.1383G>A	c.(1381-1383)ggG>ggA	p.G461G	CHRNG_uc010fye.1_Silent_p.G409G	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	461					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		ACCCTCAGGGGAATGAGGAGT	0.622000														20			9		0	0	0.008291	0	0
NFKB2	4791	broad.mit.edu	37	10	104156724	104156724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:104156724C>T	uc001kvb.3	+	5	572	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	NFKB2_uc001kva.3_Missense_Mutation_p.R103C|NFKB2_uc010qqk.1_Missense_Mutation_p.R103C|NFKB2_uc001kvd.3_Missense_Mutation_p.R103C|NFKB2_uc009xxc.3_Missense_Mutation_p.R103C	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	103	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		TGACCCACCTCGTGCTCATGC	0.607000			T	IGH@	B-NHL									26			18		0	0	0.007413	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455958	5455959	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:5455958_5455959CC>TT	uc002mca.4	+	0	533_534	c.456_457CC>TT	c.(454-459)aaccgc>aaTTgc	p.R153C		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	153	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GACTGGGCAACCGCTCTCTGGG	0.688000														37			16		0	0	0.004672	0	0
PDE1A	5136	broad.mit.edu	37	2	183050710	183050711	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:183050710_183050711GG>AA	uc002uos.3	-	13	1556_1557	c.1472_1473CC>TT	c.(1471-1473)tcc>tTT	p.S491F	PDE1A_uc010zfp.1_Missense_Mutation_p.S387F|PDE1A_uc002uoq.1_Missense_Mutation_p.S491F|PDE1A_uc010zfq.1_Missense_Mutation_p.S491F|PDE1A_uc002uor.3_Missense_Mutation_p.S475F|PDE1A_uc002uou.3_Missense_Mutation_p.S457F	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	491	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CTGCTGCAAGGGAGTAGTCTGG	0.470000														56			19		0	0	0.004672	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648682	41648682	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:41648682C>T	uc003gvz.4	+	16	3009	c.2592C>T	c.(2590-2592)ttC>ttT	p.F864F	LIMCH1_uc003gwe.4_Silent_p.F479F|LIMCH1_uc003gvu.4_Silent_p.F479F|LIMCH1_uc003gvv.4_Silent_p.F479F|LIMCH1_uc003gvw.4_Silent_p.F479F|LIMCH1_uc003gvx.4_Silent_p.F467F|LIMCH1_uc003gvy.4_Silent_p.F308F|LIMCH1_uc003gwa.4_Silent_p.F320F|LIMCH1_uc011byu.2_Silent_p.F313F|LIMCH1_uc003gwc.4_Silent_p.F325F|LIMCH1_uc003gwd.4_Silent_p.F313F|LIMCH1_uc011byv.2_Silent_p.F230F	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	479					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TATCCTCCTTCCTGAATGACC	0.483000														206			93		0	0	0.003610	0	0
UBN1	29855	broad.mit.edu	37	16	4924614	4924614	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:4924614C>T	uc002cyb.3	+	14	2542	c.2203C>T	c.(2203-2205)Ccc>Tcc	p.P735S	UBN1_uc010uxw.2_Missense_Mutation_p.P735S|UBN1_uc002cyc.3_Missense_Mutation_p.P735S	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	735					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TCTGCAGTCACCCCTCAATTT	0.512000														165			70		0	0	0.003610	0	0
TTC24	164118	broad.mit.edu	37	1	156555606	156555606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156555606G>A	uc021pbf.1	+	8	1594	c.1558G>A	c.(1558-1560)Gcc>Acc	p.A520T		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	520							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCGGCAAAGCCTCCATCTA	0.532000														70			24		0	0	0.002299	0	0
RBM25	58517	broad.mit.edu	37	14	73570176	73570176	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:73570176A>C	uc010ttu.2	+	10	1420	c.1144A>C	c.(1144-1146)Agt>Cgt	p.S382R	RBM25_uc001xno.3_Missense_Mutation_p.S382R|RBM25_uc001xnp.3_Missense_Mutation_p.S177R	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	382	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TAAGGATCGCAGTCGATCAAG	0.468000														32			8		0	0	0.006214	0	0
IGSF10	285313	broad.mit.edu	37	3	151160909	151160909	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151160909C>T	uc011bod.2	-	4	5826	c.5826G>A	c.(5824-5826)agG>agA	p.R1942R	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1942	Ig-like C2-type 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGCTTCTATCCTGGGGCTGG	0.488000														109			48		0	0	0.003610	0	0
OAS2	4939	broad.mit.edu	37	12	113425019	113425019	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:113425019C>T	uc001tuj.3	+	1	494	c.354C>T	c.(352-354)ttC>ttT	p.F118F	OAS2_uc001tuh.3_Silent_p.F118F|OAS2_uc001tui.1_Silent_p.F118F	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	118	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAACAATTTCGAGATCCAGA	0.458000														18			25		0	0	0.003954	0	0
COL27A1	85301	broad.mit.edu	37	9	116930088	116930088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:116930088C>T	uc011lxl.2	+	2	253	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_5'UTR	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	85	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCTCCAGGCTCCCACGGGCAC	0.672000														37			45		0	0	0.003214	0	0
INTS9	55756	broad.mit.edu	37	8	28633369	28633369	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:28633369G>A	uc003xha.3	-	13	1769	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	INTS9_uc011lav.2_Silent_p.I466I|INTS9_uc011law.2_Silent_p.I469I|INTS9_uc011lax.2_Silent_p.I383I|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	490					snRNA processing	integrator complex	protein binding	p.I490I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGGCAGTCGATCATGAGGT	0.612000														36			26		0	0	0.001786	0	0
AB231721	0	broad.mit.edu	37	11	58660235	58660235	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58660235C>T	uc001nne.1	+	1		c.175C>T								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F.																		TGGAAGATATCCTGAAGCTCA	0.418000														11			10		0	0	0.006214	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749677	91749677	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:91749677G>A	uc010aty.3	-	25	4780	c.4626C>T	c.(4624-4626)acC>acT	p.T1542T	CCDC88C_uc001xzj.3_Silent_p.T66T|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1542					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACTCACCTTTGGTGCGGCCTG	0.637000														20			12		0	0	0.000978	0	0
OTX1	5013	broad.mit.edu	37	2	63282713	63282713	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:63282713G>A	uc021vim.1	+	4	603	c.327G>A	c.(325-327)aaG>aaA	p.K109K	OTX1_uc002scd.3_Silent_p.K109K|OTX1_uc010ypt.2_Silent_p.K43K	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	109						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCAGCCAAGAAGAAGTCCT	0.657000														22			11		0	0	0.008291	0	0
CTSS	1520	broad.mit.edu	37	1	150724357	150724357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150724357C>T	uc001evn.3	-	4	788	c.527G>A	c.(526-528)gGa>gAa	p.G176E	CTSS_uc010pcj.2_Missense_Mutation_p.G126E	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	176					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTTTGTTTCCATATTTTTC	0.498000														154			49		0	0	0.003610	0	0
MAPK10	5602	broad.mit.edu	37	4	87028495	87028495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:87028495C>T	uc003hps.3	-	4	933	c.247G>A	c.(247-249)Gat>Aat	p.D83N	MAPK10_uc010ikg.3_Missense_Mutation_p.D45N|MAPK10_uc003hpr.3_Missense_Mutation_p.D45N|MAPK10_uc003hpt.3_Missense_Mutation_p.D83N|MAPK10_uc003hpu.3_Missense_Mutation_p.D83N|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	83	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AGGACAGCATCATACGCGGCA	0.443000														39			14		0	0	0.004990	0	0
CLEC7A	64581	broad.mit.edu	37	12	10275963	10275963	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:10275963C>T	uc001qxg.2	-	5	680	c.493_splice	c.e5-1	p.G165_splice	CLEC7A_uc001qxe.3_Splice_Site|CLEC7A_uc001qxf.2_Splice_Site_p.G119_splice|CLEC7A_uc001qxh.2_Intron|CLEC7A_uc001qxi.2_Intron|CLEC7A_uc001qxj.2_Splice_Site_p.G86_splice|CLEC7A_uc001qxk.1_Splice_Site|CLEC7A_uc009zhg.1_Splice_Site	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	165	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CTATAAATCCCTGTAATGAAA	0.383000														30			14		0	0	0.002450	0	0
DLG5	9231	broad.mit.edu	37	10	79581146	79581146	+	Silent	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:79581146G>C	uc001jzk.3	-	14	3166	c.3096C>G	c.(3094-3096)tcC>tcG	p.S1032S	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Silent_p.S636S	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1032	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTTCTGACTCGGAGCTAGTCT	0.657000														49			22		0	0	0.001882	0	0
ZNF407	55628	broad.mit.edu	37	18	72344075	72344075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:72344075C>T	uc002llw.2	+	0	1153	c.1100C>T	c.(1099-1101)aCt>aTt	p.T367I	ZNF407_uc010xfc.2_Missense_Mutation_p.T367I|ZNF407_uc010dqu.2_Missense_Mutation_p.T367I|ZNF407_uc002llu.2_Missense_Mutation_p.T366I	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAACATGTTACTTCCCTTGGT	0.383000														68			38		0	0	0.007835	0	0
KNDC1	85442	broad.mit.edu	37	10	135032558	135032558	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:135032558G>A	uc001llz.1	+	27	4825	c.4824G>A	c.(4822-4824)aaG>aaA	p.K1608K		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1608	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCTGCAAAGATAGCAGAGG	0.632000														28			10		0	0	0.000978	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960417	33960417	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:33960417A>G	uc001bxj.4	+	7	2640	c.2473A>G	c.(2473-2475)Agt>Ggt	p.S825G	ZSCAN20_uc009vui.3_Missense_Mutation_p.S824G	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	825					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGACCAGTGTAGTGAGCCTGG	0.448000														146			68		0	0	0.003610	0	0
ABCA3	21	broad.mit.edu	37	16	2376240	2376240	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2376240G>A	uc002cpy.1	-	4	802	c.90C>T	c.(88-90)ttC>ttT	p.F30F	ABCA3_uc010bsk.1_Silent_p.F30F|ABCA3_uc010bsl.1_Silent_p.F30F|ABCA3_uc002cpz.1_Silent_p.F30F	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	30					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCAATGGCAGGAAGAGTTCCA	0.572000														62			17		0	0	0.001523	0	0
IMPG1	3617	broad.mit.edu	37	6	76751653	76751653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:76751653C>T	uc003pik.1	-	1	388	c.258G>A	c.(256-258)atG>atA	p.M86I		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	86					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAATCTGTTTCATGGATTCCT	0.388000														37			30		0	0	0.002096	0	0
NID1	4811	broad.mit.edu	37	1	236175237	236175237	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:236175237G>A	uc001hxo.3	-	11	2613	c.2511C>T	c.(2509-2511)ttC>ttT	p.F837F	NID1_uc009xgd.3_Intron|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	837	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding	p.G836C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACGCAACGGAAGCCGTCTC	0.572000														57			33		0	0	0.002836	0	0
FAM129A	116496	broad.mit.edu	37	1	184787912	184787912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:184787912G>A	uc001gra.3	-	8	1227	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	FAM129A_uc001grb.1_Missense_Mutation_p.P108S|FAM129A_uc009wyh.1_Missense_Mutation_p.P173S|FAM129A_uc009wyi.1_Missense_Mutation_p.P143S	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	345					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCAGGAATGGCTGCACACTC	0.522000														220			64		0	0	0.003610	0	0
PTPRF	5792	broad.mit.edu	37	1	44085852	44085852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:44085852C>T	uc001cjr.3	+	29	5538	c.5198C>T	c.(5197-5199)aCc>aTc	p.T1733I	PTPRF_uc001cjs.3_Missense_Mutation_p.T1724I|PTPRF_uc001cju.3_Missense_Mutation_p.T1122I|PTPRF_uc009vwt.3_Missense_Mutation_p.T1293I|PTPRF_uc001cjv.3_Missense_Mutation_p.T1204I|PTPRF_uc001cjw.3_Missense_Mutation_p.T959I	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1733	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTCCACCATCATCGTC	0.597000														103			36		0	0	0.007835	0	0
SOSTDC1	25928	broad.mit.edu	37	7	16502462	16502462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:16502462G>A	uc003sth.3	-	4	1117	c.404C>T	c.(403-405)cCt>cTt	p.P135L	SOSTDC1_uc003stg.3_Missense_Mutation_p.P111L	NM_015464	NP_056279	Q6X4U4	SOSD1_HUMAN	Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA.	111	CTCK.				Wnt receptor signaling pathway					central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(2)	6	Lung NSC(10;0.185)			UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		AATCCAGTTAGGGAGCACTGG	0.567000														48			23		0	0	0.002780	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894422	78894422	+	Missense_Mutation	SNP	C	T	T	rs74315118		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:78894422C>T	uc002bec.3	-	4	1063	c.562G>A	c.(562-564)Gat>Aat	p.D188N	CHRNA3_uc002beb.3_Missense_Mutation_p.D188N|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	188					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGGACCAGATCGATTTTCGCC	0.488000														74			45		0	0	0.003610	0	0
LOC283547	283547	broad.mit.edu	37	14	39304827	39304827	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:39304827C>T	uc010amw.2	-	0		c.3582G>A			LOC283547_uc021rsj.1_Non-coding_Transcript|LOC283547_uc001wun.3_Non-coding_Transcript|LOC283547_uc001wuo.3_Non-coding_Transcript					Homo sapiens uncharacterized LOC283547 (LOC283547), non-coding RNA.																		CGTGTTCATTCCTTTTCAGAG	0.493000														16			4		0	0	0.000602	0	0
ITGB8	3696	broad.mit.edu	37	7	20449394	20449394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:20449394C>T	uc003suu.3	+	12	2885	c.2180C>T	c.(2179-2181)tCa>tTa	p.S727L	ITGB8_uc011jyh.2_Missense_Mutation_p.S592L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	727					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GTGTCAGCCTCAAAAAAGGTC	0.318000														66			29		0	0	0.005443	0	0
DDX60	55601	broad.mit.edu	37	4	169146808	169146808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169146808G>A	uc003irp.3	-	33	4845	c.4553C>T	c.(4552-4554)cCt>cTt	p.P1518L	DDX60_uc003iro.3_5'UTR	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1518							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAAATCCTCAGGGAGATCATC	0.353000														34			5		0	0	0.000602	0	0
ABCA6	23460	broad.mit.edu	37	17	67092928	67092928	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67092928G>A	uc002jhw.1	-	23	3310	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1045					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCCATAGCTGGGACTTAGCAT	0.323000														28			14		0	0	0.004007	0	0
DCDC2	51473	broad.mit.edu	37	6	24302024	24302024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24302024G>A	uc003ndx.3	-	3	778	c.476C>T	c.(475-477)cCc>cTc	p.P159L	DCDC2_uc003ndy.3_Missense_Mutation_p.P159L	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	159	Doublecortin 2.				cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GGTTTTTCTGGGGATAAGGAG	0.443000														104			61		0	0	0.003610	0	0
TRANK1	9881	broad.mit.edu	37	3	36873232	36873232	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:36873232C>T	uc003cgj.3	-	20	7958	c.7710G>A	c.(7708-7710)gtG>gtA	p.V2570V		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2570					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCCGCTTCACCACCTTCAGGA	0.572000														83			25		0	0	0.004656	0	0
EVPL	2125	broad.mit.edu	37	17	74005370	74005371	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:74005370_74005371CC>TT	uc010wss.1	-	21	4209_4210	c.3981_3982GG>AA	c.(3979-3984)cgggcc>cgAAcc	p.A1328T	EVPL_uc002jqi.2_Missense_Mutation_p.A1306T|EVPL_uc010wst.1_Missense_Mutation_p.A776T	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1306	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCACCTTGGCCCGCTCGCGCC	0.673000														155			59		0	0	0.004672	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1810423	1810423	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:1810423C>T	uc010uvl.2	+	11	1467	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	MAPK8IP3_uc002cmk.3_Silent_p.V448V|MAPK8IP3_uc002cml.3_Silent_p.V438V|MAPK8IP3_uc021tah.1_Silent_p.V442V	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	448					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TTGCCAAGGTCGACCAGCTGT	0.557000														79			38		0	0	0.004878	0	0
DVL1	1855	broad.mit.edu	37	1	1275529	1275529	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:1275529G>A	uc001aer.4	-	7	845	c.798C>T	c.(796-798)atC>atT	p.I266I	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_5'UTR|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	266	PDZ.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCTGCCCCACGATGCTGATGC	0.667000														42			17		0	0	0.004990	0	0
RAG2	5897	broad.mit.edu	37	11	36614441	36614441	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:36614441A>G	uc021qge.1	-	0	1278	c.1278T>C	c.(1276-1278)gaT>gaC	p.D426D	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Silent_p.D426D|RAG2_uc021qgd.1_Silent_p.D426D|RAG2_uc001mwv.4_Silent_p.D426D|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	426					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.D426Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				AAGTGTTGATATCCACATCAC	0.458000									Familial Hemophagocytic Lymphohistiocytosis					61			34		0	0	0.002096	0	0
TRPC3	7222	broad.mit.edu	37	4	122825578	122825578	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:122825578T>A	uc003ieg.2	-	7	2226	c.2152A>T	c.(2152-2154)Aat>Tat	p.N718Y	TRPC3_uc010inr.2_Missense_Mutation_p.N590Y|TRPC3_uc003ief.2_Missense_Mutation_p.N645Y|TRPC3_uc011cgl.1_Missense_Mutation_p.N382Y	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	633					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TATCCAATATTTTCTATGAAT	0.318000														47			25		0	0	0.002780	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31797893	31797893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:31797893C>T	uc002yob.1	-	0	338	c.338G>A	c.(337-339)gGa>gAa	p.G113E		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	113						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						GCTCCTGGATCCACAGCTCAG	0.502000														28			14		0	0	0.002450	0	0
MYB	4602	broad.mit.edu	37	6	135513630	135513631	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:135513630_135513631CC>TT	uc003qfh.3	+	5	895_896	c.696_697CC>TT	c.(694-699)ctccct>ctTTct	p.P233S	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P233S|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P45S|MYB_uc010kgi.3_Missense_Mutation_p.P233S|MYB_uc003qfq.3_Missense_Mutation_p.P233S|MYB_uc010kgj.3_Missense_Mutation_p.P233S|MYB_uc003qfo.3_Missense_Mutation_p.P233S|MYB_uc003qfu.3_Missense_Mutation_p.P233S|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P233S|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P233S|MYB_uc003qgd.1_Missense_Mutation_p.P45S	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	233					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CAGCTCAACTCCCTGCCACTGG	0.480000			T	NFIB	adenoid cystic carcinoma									58			37		0	0	0.004672	0	0
UNC13A	23025	broad.mit.edu	37	19	17741504	17741504	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:17741504C>T	uc021uqk.1	-	28	3523	c.3481G>A	c.(3481-3483)Gat>Aat	p.D1161N		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1162	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGCAGGAAATCCCGGGACACC	0.567000														62			25		0	0	0.004656	0	0
HYDIN	54768	broad.mit.edu	37	16	70954814	70954814	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70954814C>T	uc002ezr.3	-	45	7613	c.7462G>A	c.(7462-7464)Gaa>Aaa	p.E2488K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2489										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGGCGCTTCCTCCATCCCT	0.617000														20			6		0	0	0.001168	0	0
OSBPL10	114884	broad.mit.edu	37	3	31789438	31789439	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:31789438_31789439GG>AA	uc021wuu.1	-	4	1574_1575	c.903_904CC>TT	c.(901-906)caccag>caTTag	p.Q302*	OSBPL10_uc003ceu.1_Nonsense_Mutation_p.Q59*|OSBPL10_uc011axf.2_Nonsense_Mutation_p.Q238*	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	302					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TGGCCCGCCTGGTGCACACTCT	0.609000														104			115		0	0	0.004672	0	0
P4HA3	283208	broad.mit.edu	37	11	73988184	73988184	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:73988184C>T	uc010rrj.2	-	8	1224	c.1181G>A	c.(1180-1182)tGg>tAg	p.W394*	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Nonsense_Mutation_p.W394*			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	394						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GTCCTTCAGCCAGGCACTAAA	0.463000														84			19		0	0	0.001882	0	0
PTRHD1	391356	broad.mit.edu	37	2	25016031	25016031	+	Silent	SNP	G	A	A	rs140873087		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:25016031G>A	uc002rfm.3	-	0	221	c.216C>T	c.(214-216)ctC>ctT	p.L72L	CENPO_uc002rfp.2_5'Flank|CENPO_uc002rfq.2_5'Flank	NM_001013663	NP_001013685	Q6GMV3	PTRD1_HUMAN	Homo sapiens peptidyl-tRNA hydrolase domain containing 1 (PTRHD1), mRNA.	72					translation		aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1)	6						CCAGCTCTTGGAGGTAAGCGG	0.687000														34			22		0	0	0.002299	0	0
DBF4	10926	broad.mit.edu	37	7	87537077	87537077	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:87537077C>G	uc003ujf.1	+	11	2128	c.1624C>G	c.(1624-1626)Cac>Gac	p.H542D	DBF4_uc003ujh.1_Missense_Mutation_p.H282D|DBF4_uc003ujg.1_Missense_Mutation_p.H318D|DBF4_uc011khf.1_Missense_Mutation_p.H309D	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	542					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TTCACAAGAGCACCTAACTGT	0.388000														75			33		0	0	0.004878	0	0
PPEF2	5470	broad.mit.edu	37	4	76808004	76808004	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:76808004C>T	uc003hix.3	-	7	936	c.579_splice	c.e7+1	p.K193_splice	PPEF2_uc003hiy.3_Splice_Site|PPEF2_uc003hiz.1_Splice_Site_p.K193_splice	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	193	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AACATTCATACCTTATAAAAT	0.294000														60			23		0	0	0.003330	0	0
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:13489312G>A	uc001imm.2	-	7	1332	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	BEND7_uc001iml.2_Non-coding_Transcript|BEND7_uc001imn.3_Silent_p.I105I|BEND7_uc001imo.4_Silent_p.I357I	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	396	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383000														60			34		0	0	0.006230	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:2843503C>T	uc002whe.3	+	12	1302	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Intron|VPS16_uc002whg.3_Silent_p.F104F	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	418					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000														124			54		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77323240	77323240	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:77323240G>A	uc002ffc.4	-	21	3890	c.3471C>T	c.(3469-3471)tcC>tcT	p.S1157S		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1157	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GACAACTTGAGGAAGGCCGGC	0.542000														93			56		0	0	0.003610	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55890037C>T	uc001nii.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000														180			82		0	0	0.003610	0	0
PLCZ1	89869	broad.mit.edu	37	12	18836243	18836243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:18836243G>A	uc021qvx.1	-	14	1948	c.1757C>T	c.(1756-1758)cCt>cTt	p.P586L	PLCZ1_uc001rdv.4_Missense_Mutation_p.P482L|PLCZ1_uc001rdw.4_Missense_Mutation_p.P327L|PLCZ1_uc001rdu.1_Missense_Mutation_p.P368L|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	586					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAAAACAGAGGAATACGACG	0.383000														67			25		0	0	0.004656	0	0
abParts	0	broad.mit.edu	37	2	90212142	90212142	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:90212142C>T	uc010yts.2	+	37		c.4829C>T								Parts of antibodies, mostly variable regions.																		CCACTGGCATCCCAGCCAGGT	0.552000														69			28		0	0	0.008361	0	0
MPP6	51678	broad.mit.edu	37	7	24690276	24690276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:24690276G>A	uc003swx.3	+	5	895	c.596G>A	c.(595-597)gGa>gAa	p.G199E	MPP6_uc003swy.3_Missense_Mutation_p.G199E	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	199	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AATATTAGTGGAAGTGTCACC	0.308000														32			12		0	0	0.000978	0	0
DNAH1	25981	broad.mit.edu	37	3	52366264	52366264	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:52366264C>T	uc011bef.2	+	7	1401	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A	DNAH1_uc003ddt.1_Silent_p.A380A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	380	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGCCAACGCCCTGCGCAAGA	0.572000														20			10		0	0	0.008291	0	0
TRIM25	7706	broad.mit.edu	37	17	54990975	54990976	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:54990975_54990976GG>AA	uc002iut.3	-	0	434_435	c.374_375CC>TT	c.(373-375)tcc>tTT	p.S125F	TRIM25_uc010dcj.3_5'UTR	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	125					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CCTGACAGAAGGAGGCCATGCA	0.693000														26			13		0	0	0.004672	0	0
OR8H3	390152	broad.mit.edu	37	11	55890316	55890316	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55890316C>T	uc001nii.1	+	0	468	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTATGGACTCCTTTGTCAATG	0.443000														85			60		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183694705	183694705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183694705C>T	uc003ivd.1	+	21	5048	c.4973C>T	c.(4972-4974)gCt>gTt	p.A1658V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1658					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATGGACAAGGCTATCACAGTG	0.438000														85			41		0	0	0.006999	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28329233	28329233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:28329233C>T	uc010jrc.3	+	3	868	c.535C>T	c.(535-537)Cct>Tct	p.P179S	ZKSCAN3_uc003nle.4_Missense_Mutation_p.P179S|ZKSCAN3_uc003nlf.4_Missense_Mutation_p.P31S	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	179					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GGGATCCCAGCCTTTACAAGA	0.418000														70			17		0	0	0.006122	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902915	61902915	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:61902915G>A	uc002jbz.3	-	4	459	c.381C>T	c.(379-381)gtC>gtT	p.V127V	FTSJ3_uc002jca.3_Silent_p.V127V|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	127					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AAGCATCATGGACCCAGCTAG	0.557000														60			26		0	0	0.005443	0	0
CACNA2D1	781	broad.mit.edu	37	7	81598265	81598265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:81598265G>A	uc003uhr.1	-	28	2589	c.2333C>T	c.(2332-2334)tCg>tTg	p.S778L	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	790						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CATAATGCCCGATTCATAGGC	0.279000														123			42		0	0	0.003610	0	0
DDO	8528	broad.mit.edu	37	6	110714539	110714539	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:110714539C>T	uc003puc.3	-	4	553	c.549G>A	c.(547-549)aaG>aaA	p.K183K	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.K124K	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	155					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding	p.I182R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTCCACTTCCCTTTATCCTAC	0.468000														46			25		0	0	0.005443	0	0
NCF2	4688	broad.mit.edu	37	1	183539946	183539946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:183539946C>T	uc001gqj.4	-	5	913	c.638G>A	c.(637-639)aGt>aAt	p.S213N	NCF2_uc010pod.2_Missense_Mutation_p.S168N|NCF2_uc010poe.2_Missense_Mutation_p.S132N|NCF2_uc001gqk.4_Missense_Mutation_p.S213N	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	213					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CCCAGAGAAACTGTCTTGATC	0.517000														68			18		0	0	0.001882	0	0
PDE2A	5138	broad.mit.edu	37	11	72296629	72296629	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:72296629G>A	uc010rrc.2	-	14	1437	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PDE2A_uc001oso.3_Silent_p.L376L|PDE2A_uc010rra.2_Silent_p.L390L|PDE2A_uc001osn.3_Silent_p.L141L|PDE2A_uc010rrb.2_Silent_p.L388L|PDE2A_uc010rrd.2_Silent_p.L282L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	397					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTGCCACTTGGAGAAGAGCCT	0.592000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		214			74		0	0	0.003610	0	0
ZNF654	55279	broad.mit.edu	37	3	88189574	88189574	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:88189574A>T	uc003dqv.3	+	0	1313	c.1114A>T	c.(1114-1116)Aaa>Taa	p.K372*	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAAATCAAGGAAAGAGTCTAC	0.358000														30			9		0	0	0.006214	0	0
CFB	629	broad.mit.edu	37	6	31907014	31907014	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31907014C>G	uc011dor.2	+	5	941	c.677C>G	c.(676-678)tCc>tGc	p.S226C	CFB_uc003nyc.2_Missense_Mutation_p.S166C|CFB_uc011doo.2_Missense_Mutation_p.S133C|CFB_uc011dop.2_Missense_Mutation_p.S165C|CFB_uc003nyf.3_Missense_Mutation_p.S379C|CFB_uc010jtk.3_Missense_Mutation_p.S247C|CFB_uc011doq.2_Missense_Mutation_p.S350C|CFB_uc003nyh.2_Missense_Mutation_p.S30C	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	392					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTAGGAAAGTCCAATATGGGT	0.468000														312			101		0	0	0.003610	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603646	138603646	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:138603646G>A	uc011kql.2	-	1	775	c.726C>T	c.(724-726)atC>atT	p.I242I	KIAA1549_uc011kqj.2_Silent_p.I242I	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	242						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGTTGGAACGATGCCCTCAG	0.522000			O	BRAF	pilocytic astrocytoma									85			40		0	0	0.006999	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455313	70455313	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:70455313G>A	uc011caq.2	-	6	1975	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	UGT2A1_uc010ihu.3_Missense_Mutation_p.P454L|UGT2A1_uc003hem.4_Missense_Mutation_p.P454L|UGT2A1_uc010ihs.3_Missense_Mutation_p.P463L|UGT2A1_uc021xox.1_Missense_Mutation_p.P419L|UGT2A1_uc010iht.3_Missense_Mutation_p.P410L	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	454					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCGATCCAGGGGCTTTACAGG	0.438000														85			41		0	0	0.002852	0	0
OR4K13	390433	broad.mit.edu	37	14	20502402	20502402	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20502402A>G	uc010tkz.2	-	0	516	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTCTATAACATTGGGACCAC	0.483000														90			41		0	0	0.006999	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313648	162313648	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:162313648G>A	uc001gbv.2	+	5	864	c.477G>A	c.(475-477)cgG>cgA	p.R159R	NOS1AP_uc010pkr.1_Silent_p.R154R|NOS1AP_uc001gbw.2_Silent_p.R154R|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	159	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding	p.V158F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAATCGTTCGGACGGTGGGGC	0.562000														141			31		0	0	0.004289	0	0
KRT39	390792	broad.mit.edu	37	17	39122818	39122818	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39122818C>T	uc002hvo.1	-	0	327	c.291G>A	c.(289-291)aaG>aaA	p.K97K	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	97	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GCATGGTCTCCTTCTCATTAC	0.458000														182			68		0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70891617	70891617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70891617G>A	uc002ezr.3	-	71	12434	c.12283C>T	c.(12283-12285)Ctc>Ttc	p.L4095F	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4096										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAATGAGGAGAGAGCTGAAG	0.488000														99			16		0	0	0.007413	0	0
FAM126B	285172	broad.mit.edu	37	2	201862171	201862171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:201862171G>A	uc002uws.4	-	7	811	c.623C>T	c.(622-624)tCc>tTc	p.S208F	FAM126B_uc002uwu.3_Missense_Mutation_p.S126F|FAM126B_uc002uwv.3_Missense_Mutation_p.S208F|FAM126B_uc002uww.1_Missense_Mutation_p.S208F	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	208						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TTCTCACCTGGAACCCATCCG	0.353000														45			38		0	0	0.008740	0	0
PTPRB	5787	broad.mit.edu	37	12	70980945	70980945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:70980945G>A	uc001swb.4	-	6	1529	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	PTPRB_uc010sto.2_Missense_Mutation_p.S500F|PTPRB_uc010stp.2_Missense_Mutation_p.S410F|PTPRB_uc001swc.4_Missense_Mutation_p.S718F|PTPRB_uc001swa.4_Missense_Mutation_p.S718F|PTPRB_uc001swd.4_Missense_Mutation_p.S717F|PTPRB_uc009zrr.2_Missense_Mutation_p.S597F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	500	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTCAGCTAGGGAAATGATGTA	0.478000														42			15		0	0	0.003163	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633847	70633847	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:70633847C>T	uc001xly.3	-	1	2047	c.1293G>A	c.(1291-1293)gtG>gtA	p.V431V	SLC8A3_uc001xlw.3_Silent_p.V431V|SLC8A3_uc001xlx.3_Silent_p.V431V|SLC8A3_uc001xlz.3_Silent_p.V431V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	431	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.V431M(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTTTGTAGTCCACATACATGG	0.517000														96			39		0	0	0.004289	0	0
OR13G1	441933	broad.mit.edu	37	1	247836281	247836281	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247836281C>T	uc001idi.1	-	0	63	c.63G>A	c.(61-63)caG>caA	p.Q21Q		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGATAATTCCCTGGAGTTCAG	0.418000														44			16		0	0	0.004990	0	0
OR6C70	390327	broad.mit.edu	37	12	55863875	55863875	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:55863875C>T	uc010spn.2	-	0	48	c.48G>A	c.(46-48)acG>acA	p.T16T		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAGAATTATCCGTCAGTCCCA	0.353000														23			20		0	0	0.002780	0	0
PTPRJ	5795	broad.mit.edu	37	11	48161221	48161221	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48161221A>T	uc001ngp.4	+	10	2691	c.2336A>T	c.(2335-2337)gAa>gTa	p.E779V	PTPRJ_uc010rhr.1_Missense_Mutation_p.E224V	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	779	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATAGAACGGAAGTCACGTAT	0.537000														47			14		0	0	0.004007	0	0
PRKCG	5582	broad.mit.edu	37	19	54395022	54395022	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:54395022G>A	uc002qcq.1	+	5	906	c.624G>A	c.(622-624)acG>acA	p.T208T	PRKCG_uc010eqz.1_Silent_p.T208T|PRKCG_uc010yef.1_Silent_p.T208T|PRKCG_uc010yeg.1_Silent_p.T208T|PRKCG_uc010yeh.1_Silent_p.T95T|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	208	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.T208T(3)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGAACCTGACGAAACAGAAGA	0.522000														27			30		0	0	0.001786	0	0
CNTD2	79935	broad.mit.edu	37	19	40732303	40732303	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:40732303C>T	uc010xvi.2	-	0	295	c.246G>A	c.(244-246)ggG>ggA	p.G82G	CNTD2_uc002ond.3_Non-coding_Transcript	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	82					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGAAGATGTCCCCGGCGTACT	0.726000														10			7		0	0	0.008291	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540295	96540295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96540295C>T	uc010qnz.2	+	3	521	c.521C>T	c.(520-522)cCc>cTc	p.P174L	CYP2C19_uc009xus.1_Missense_Mutation_p.P39L|CYP2C19_uc010qny.2_Missense_Mutation_p.P152L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	174					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCTGTGCTCCCTGCAATGTG	0.333000														123			63		0	0	0.003610	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915018	94915018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:94915018C>T	uc001ydd.1	-	1	154	c.94G>A	c.(94-96)Ggg>Agg	p.G32R		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	32					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GGTTGAGGCCCCTGCAGACTT	0.547000														96			62		0	0	0.003610	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86539224	86539224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:86539224C>T	uc011kha.2	-	15	2448	c.2263G>A	c.(2263-2265)Gca>Aca	p.A755T	KIAA1324L_uc003uie.3_Missense_Mutation_p.A588T|KIAA1324L_uc011kgz.2_Missense_Mutation_p.A641T|KIAA1324L_uc003uif.2_Missense_Mutation_p.A507T	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	755						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CATACAAATGCCCCTACCAAA	0.398000														46			37		0	0	0.004878	0	0
MYO3A	53904	broad.mit.edu	37	10	26462931	26462931	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26462931G>A	uc001isn.2	+	29	4098	c.3738G>A	c.(3736-3738)gaG>gaA	p.E1246E	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1246					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTACACAGAGGAGAGGAATT	0.438000														42			22		0	0	0.003954	0	0
THSD7B	80731	broad.mit.edu	37	2	138000107	138000107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:138000107G>A	uc002tva.1	+	8	2138	c.2138G>A	c.(2137-2139)aGt>aAt	p.S713N	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S603N	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.S744I(1)|p.S713I(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGCTTTCAGTGAGTGGACA	0.463000														41			23		0	0	0.005443	0	0
ACSM2A	123876	broad.mit.edu	37	16	20481027	20481027	+	Silent	SNP	C	T	T	rs145878643		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:20481027C>T	uc010bwe.3	+	4	821	c.582C>T	c.(580-582)ttC>ttT	p.F194F	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.F115F|ACSM2A_uc002dhf.4_Silent_p.F194F|ACSM2A_uc002dhg.4_Silent_p.F194F|ACSM2A_uc010vay.2_Silent_p.F115F	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	194					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGAACTTCAAGAAACTAC	0.438000														133			67		0	0	0.003610	0	0
SIN3B	23309	broad.mit.edu	37	19	16974519	16974519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:16974519C>T	uc002ney.2	+	10	1414	c.1391C>T	c.(1390-1392)cCt>cTt	p.P464L	SIN3B_uc002nez.2_Missense_Mutation_p.P432L|SIN3B_uc010xpi.1_Missense_Mutation_p.P22L	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	464	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GTCTCCTTCCCTTCCTGGTCT	0.567000														64			31		0	0	0.003271	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644347	37644347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:37644347G>A	uc002ofo.1	-	4	685	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ZNF585A_uc002ofm.1_Missense_Mutation_p.L97F|ZNF585A_uc002ofn.1_Missense_Mutation_p.L97F	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCTGCAAGAACTTTCAGG	0.393000														52			39		0	0	0.006999	0	0
EMR3	84658	broad.mit.edu	37	19	14758104	14758104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14758104C>T	uc002mzi.4	-	7	919	c.771G>A	c.(769-771)atG>atA	p.M257I	EMR3_uc010dzp.3_Missense_Mutation_p.M205I|EMR3_uc010xnv.2_Missense_Mutation_p.M131I	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	257					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTTTCTTATCCATCTCTTCAA	0.413000														59			29		0	0	0.005443	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107007	107007	+	RNA	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrGL000211.1:107007G>A	uc003boa.3	+	3		c.706G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCCTGGTTAGCAGAAAATGC	0.408000														156			6		0	0	0.001168	0	0
KCNB2	9312	broad.mit.edu	37	8	73849889	73849889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:73849889C>T	uc003xzb.3	+	2	2887	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	767					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGAGACAGACCCTTGCTGGG	0.562000														56			33		0	0	0.002445	0	0
DHODH	1723	broad.mit.edu	37	16	72046129	72046129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:72046129C>T	uc002fbp.3	+	1	223	c.202C>T	c.(202-204)Cca>Tca	p.P68S		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	68					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGGGCTCCTTCCACGGGCCAG	0.562000														56			30		0	0	0.002096	0	0
DDHD1	80821	broad.mit.edu	37	14	53513665	53513666	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:53513665_53513666CC>TT	uc001xai.3	-	13	2752	c.2522_splice	c.e13-1	p.V841_splice	DDHD1_uc001xaj.3_Splice_Site_p.L820_splice|DDHD1_uc001xah.3_Splice_Site_p.L813_splice|DDHD1_uc001xag.3_Splice_Site_p.L395_splice	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	841	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGATCCAACTCCACTAAAAAGA	0.361000														14			8		0	0	0.004672	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787168	73787168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73787168G>A	uc011dyh.2	+	3	1087	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	KCNQ5_uc003pgj.4_Missense_Mutation_p.R247Q|KCNQ5_uc011dyi.2_Missense_Mutation_p.R247Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R247Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R247Q|KCNQ5_uc011dyj.2_Missense_Mutation_p.R247Q|KCNQ5_uc011dyk.2_Missense_Mutation_p.R6Q	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	247					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CGCATGGACCGAAGGGGAGGC	0.428000														22			17		0	0	0.004007	0	0
GALNTL5	168391	broad.mit.edu	37	7	151699961	151699961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:151699961G>A	uc003wkp.3	+	5	1091	c.821G>A	c.(820-822)gGa>gAa	p.G274E	GALNTL5_uc010lqf.3_Missense_Mutation_p.G163E|GALNTL5_uc003wkq.3_Missense_Mutation_p.G25E|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	274						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CTTGTAAGGGGAACTTTTGAT	0.433000														92			52		0	0	0.003610	0	0
NFAT5	10725	broad.mit.edu	37	16	69725733	69725734	+	Missense_Mutation	DNP	TC	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:69725733_69725734TC>AA	uc002exm.2	+	11	2287_2288	c.1951_1952TC>AA	c.(1951-1953)tca>AAa	p.S651K	NFAT5_uc002exj.2_Missense_Mutation_p.S575K|NFAT5_uc002exk.2_Missense_Mutation_p.S575K|NFAT5_uc002exl.2_Missense_Mutation_p.S669K|NFAT5_uc002exn.2_Missense_Mutation_p.S668K|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Missense_Mutation_p.S575K	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	651					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCATCACCATCATCTTCCCAC	0.406000														60			22		0	0	0.004672	0	0
OR52A5	390054	broad.mit.edu	37	11	5153353	5153353	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5153353T>C	uc010qyx.2	-	0	520	c.520A>G	c.(520-522)Act>Gct	p.T174A		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R173*(1)|p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGACTGTAGTTCGATAGTGT	0.443000														72			40		0	0	0.002852	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480552	140480552	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140480552C>T	uc003lio.3	+	0	319	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	107	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACATTTTCAGATATTACT	0.423000														41			35		0	0	0.002836	0	0
SMARCC1	6599	broad.mit.edu	37	3	47747945	47747945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:47747945G>A	uc003crq.2	-	9	1112	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SMARCC1_uc011bbd.1_Missense_Mutation_p.P223S	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	332	Poly-Pro.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GTCGGAGGGGGAGGCGAAGGC	0.458000														29			18		0	0	0.007413	0	0
ATM	472	broad.mit.edu	37	11	108117798	108117798	+	Missense_Mutation	SNP	C	T	T	rs138398778		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:108117798C>T	uc001pkb.1	+	7	1394	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	ATM_uc009yxr.1_Missense_Mutation_p.R337C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	337			R -> C (in a colorectal adenocarcinoma sample; somatic mutation).|R -> H (in a colorectal adenocarcinoma sample; somatic mutation).		DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.R337C(6)|p.R337S(4)|p.F336_A340del(2)|p.R337H(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTCAGGATTTCGTAATATTGC	0.323000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				18			17		0	0	0.007413	0	0
KCNA6	3742	broad.mit.edu	37	12	4920202	4920202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:4920202G>A	uc001qng.3	+	0	1861	c.995G>A	c.(994-996)gGg>gAg	p.G332E	KCNA6_uc021qtr.1_Missense_Mutation_p.G332E	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	332						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GGCCAGAATGGGCAGCAGGCC	0.622000										HNSCC(72;0.22)				28			16		0	0	0.004007	0	0
SEPT7	989	broad.mit.edu	37	7	35872491	35872491	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:35872491A>G	uc010kxc.3	+	1	368	c.144A>G	c.(142-144)gaA>gaG	p.E48E	SEPT7_uc011kat.2_Silent_p.E48E|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	50					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GAGGTTTTGAATTCACGCTTA	0.348000														97			35		0	0	0.004878	0	0
CRP	1401	broad.mit.edu	37	1	159683504	159683504	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:159683504C>T	uc001ftw.3	-	1	590	c.486G>A	c.(484-486)ggG>ggA	p.G162G	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	162	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.G161S(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAAAGTTCCCACCGAAGG	0.517000														262			87		0	0	0.003610	0	0
ZBTB48	3104	broad.mit.edu	37	1	6640826	6640826	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:6640826A>G	uc009vmc.2	+	1	280	c.157A>G	c.(157-159)Agc>Ggc	p.S53G	ZBTB48_uc001anx.3_Missense_Mutation_p.S53G|ZBTB48_uc009vmd.2_Missense_Mutation_p.S53G	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	53	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		CTTTTTCCAGAGCCTCTACGG	0.597000														54			30		0	0	0.003755	0	0
LDHB	3945	broad.mit.edu	37	12	21807540	21807540	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21807540A>G	uc001rfd.3	-	1	399	c.66T>C	c.(64-66)aaT>aaC	p.N22N	LDHB_uc001rfe.3_Silent_p.N22N	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	22					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity	p.N22Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CAGTGATCTTATTGTTTGGAA	0.418000														68			28		0	0	0.007291	0	0
PIPSL	266971	broad.mit.edu	37	10	95719027	95719027	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95719027C>T	uc009xuj.2	-	0	2646	c.2127G>A	c.(2125-2127)atG>atA	p.M709I						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GCTGCTCTTCCATAAATACAC	0.582000														41			18		0	0	0.004990	0	0
SATB1	6304	broad.mit.edu	37	3	18391023	18391023	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:18391023T>G	uc003cbh.3	-	10	3666	c.1931A>C	c.(1930-1932)aAg>aCg	p.K644T	SATB1_uc003cbi.3_Missense_Mutation_p.K676T|SATB1_uc003cbj.3_Missense_Mutation_p.K644T	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	644					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGCCGGGTCTTCTGTCGGTT	0.587000														105			35		0	0	0.004878	0	0
LRP1B	53353	broad.mit.edu	37	2	141214114	141214114	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:141214114G>A	uc002tvj.1	-	61	10845	c.9873C>T	c.(9871-9873)gcC>gcT	p.A3291A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3291					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A3291A(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTTCCAGGGGCTAAAAGGC	0.428000										TSP Lung(27;0.18)				57			22		0	0	0.001882	0	0
ANKRD5	63926	broad.mit.edu	37	20	10032475	10032475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:10032475G>A	uc002wno.3	+	7	2201	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R603K|ANKRD5_uc010gbz.3_Missense_Mutation_p.R414K	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	603							calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						GAAAGCTGCAGACTGGATACA	0.358000														29			18		0	0	0.001523	0	0
PCBP4	57060	broad.mit.edu	37	3	51994267	51994267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:51994267G>A	uc003dcc.2	-	3	944	c.223C>T	c.(223-225)Cct>Tct	p.P75S	PCBP4_uc003dcb.2_Missense_Mutation_p.P75S|PCBP4_uc003dcf.2_Missense_Mutation_p.P109S|PCBP4_uc003dce.2_Missense_Mutation_p.P109S|PCBP4_uc003dcg.2_Missense_Mutation_p.P75S|PCBP4_uc003dcj.2_Missense_Mutation_p.P109S|PCBP4_uc003dck.2_Missense_Mutation_p.P109S|PCBP4_uc003dch.2_Missense_Mutation_p.P109S|PCBP4_uc003dci.2_Missense_Mutation_p.P32S			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	109						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGACTGGCAGGGATGACAAGG	0.597000														43			22		0	0	0.002299	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921619	47921619	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:47921619C>T	uc003tny.2	-	19	3364	c.3330G>A	c.(3328-3330)ggG>ggA	p.G1110G		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1110	REJ.				cell-cell adhesion	integral to membrane		p.G1110G(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCAGGTTATCCCCATCTCCAG	0.552000														54			22		0	0	0.002299	0	0
PLCG2	5336	broad.mit.edu	37	16	81942134	81942134	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81942134G>A	uc002fgt.3	+	16	1849	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	PLCG2_uc010chg.1_Silent_p.K557K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	557	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGGGGGGCAAGGATGGCACCT	0.557000														35			14		0	0	0.003163	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049416	36049416	+	Missense_Mutation	SNP	C	T	T	rs147471382	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:36049416C>T	uc003jjz.2	-	3	550	c.418G>A	c.(418-420)Gac>Aac	p.D140N	UGT3A2_uc011cos.2_Missense_Mutation_p.D106N|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	140						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCACCATGTCGAAGTTCTCA	0.368000														39			24		0	0	0.003330	0	0
OR52J3	119679	broad.mit.edu	37	11	5068338	5068338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5068338C>T	uc010qyv.2	+	0	583	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACATTCGTATCAATGG	0.438000														96			48		0	0	0.003214	0	0
MFNG	4242	broad.mit.edu	37	22	37882124	37882124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:37882124G>A	uc003ass.2	-	0	355	c.92C>T	c.(91-93)tCc>tTc	p.S31F	MFNG_uc011anj.2_Missense_Mutation_p.S31F|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	31					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CCGCTGCGGGGACAGGTTCAA	0.662000														34			27		0	0	0.008361	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034738	16034738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:16034738C>T	uc002nbu.2	-	6	838	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F11_uc010eab.1_Missense_Mutation_p.D268N|CYP4F11_uc002nbt.2_Missense_Mutation_p.D268N	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	268					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATGACGGCATCTGTGAAGTCG	0.532000														80			44		0	0	0.002222	0	0
TSHR	7253	broad.mit.edu	37	14	81610068	81610068	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:81610068C>T	uc001xvd.1	+	9	1822	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	556					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGCCCTGCTTCCTTTGGTGGG	0.552000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							65			27		0	0	0.006320	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895383	42895383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:42895383G>A	uc003gwt.3	+	0	101	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	34					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GGAAGTGTATGAAGATGGGCA	0.512000														141			56		0	0	0.003610	0	0
CPNE1	8904	broad.mit.edu	37	20	34220572	34220572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34220572G>A	uc010zvj.2	-	2	558	c.191C>T	c.(190-192)tCc>tTc	p.S64F	CPNE1_uc002xde.3_Missense_Mutation_p.S59F|CPNE1_uc002xdf.3_Missense_Mutation_p.S59F|CPNE1_uc002xdi.3_Missense_Mutation_p.S59F|CPNE1_uc002xdj.3_Missense_Mutation_p.S59F|CPNE1_uc002xdl.3_Missense_Mutation_p.S59F|CPNE1_uc002xdm.3_Missense_Mutation_p.S59F|CPNE1_uc010gfk.2_Missense_Mutation_p.S59F|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript	NM_003915	NP_690905	Q99829	CPNE1_HUMAN	Homo sapiens copine I (CPNE1), transcript variant 3, mRNA.	59	C2 1.				lipid metabolic process|vesicle-mediated transport		calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TAGAGTCTTGGAGAACTCAGG	0.532000														74			40		0	0	0.006230	0	0
RTKN	6242	broad.mit.edu	37	2	74657764	74657764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74657764G>A	uc002sle.3	-	2	469	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	RTKN_uc002slc.3_Missense_Mutation_p.R105C|RTKN_uc002sld.3_Missense_Mutation_p.R68C	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	118					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ACCCGGCCGCGGCAGGGGGAG	0.612000														58			29		0	0	0.007291	0	0
EPX	8288	broad.mit.edu	37	17	56272381	56272381	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56272381C>T	uc002ivq.3	+	5	770	c.651C>T	c.(649-651)gaC>gaT	p.D217D		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	217					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGACCTCCGACCGTGGCCGAG	0.617000														30			11		0	0	0.000978	0	0
ASUN	55726	broad.mit.edu	37	12	27089609	27089609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:27089609G>A	uc001rhk.4	-	1	665	c.128C>T	c.(127-129)cCt>cTt	p.P43L	ASUN_uc010sjk.2_Intron|FGFR1OP2_uc001rhl.3_5'Flank|FGFR1OP2_uc001rhm.3_5'Flank|FGFR1OP2_uc001rhn.3_5'Flank	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	43					cell division|mitosis|regulation of mitotic cell cycle		protein binding										GGGGGCCAAAGGAATGATTCC	0.398000														39			13		0	0	0.002450	0	0
OR5T2	219464	broad.mit.edu	37	11	55999628	55999628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55999628C>T	uc010rjc.2	-	0	1034	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	345					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CTGATTTTTCCCAAACATTTT	0.318000														20			17		0	0	0.004007	0	0
ZNF43	7594	broad.mit.edu	37	19	21991416	21991416	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:21991416T>G	uc002nqj.3	-	3	1553	c.1423A>C	c.(1423-1425)Att>Ctt	p.I475L	ZNF43_uc002nql.3_Missense_Mutation_p.I469L|ZNF43_uc002nqm.3_Missense_Mutation_p.I469L|ZNF43_uc010ecv.3_Missense_Mutation_p.I469L|ZNF43_uc002nqk.3_Missense_Mutation_p.I405L	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GCAGTATGAATTCTCTTATGT	0.353000														31			20		0	0	0.007413	0	0
DOK6	220164	broad.mit.edu	37	18	67508495	67508495	+	Missense_Mutation	SNP	C	T	T	rs76231229	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:67508495C>T	uc002lkl.3	+	7	1069	c.872C>T	c.(871-873)tCg>tTg	p.S291L		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	291							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGGTTTGGTTCGTCAAAGATG	0.473000														81			37		0	0	0.005524	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23689359	23689359	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23689359C>T	uc021sfy.1	-	4	306	c.208_splice	c.e4-1	p.E70_splice	GOLGA6L2_uc010ayh.2_Splice_Site					RecName: Full=Golgin subfamily A member 6-like protein 2;											breast(1)|endometrium(7)	8						GCCTTCTTTTCCTATAGAAAG	0.537000														4			4		0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11671833	11671833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:11671833C>T	uc002gne.3	+	36	7302	c.7234C>T	c.(7234-7236)Cct>Tct	p.P2412S	DNAH9_uc010coo.3_Missense_Mutation_p.P1706S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2412					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGTCAAGTTTCCTTCCCAAGG	0.498000														23			26		0	0	0.003954	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768543	140768543	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140768543T>G	uc003lkc.2	+	0	1092	c.1092T>G	c.(1090-1092)atT>atG	p.I364M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	369	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACACATATTGCTTTGCTCA	0.413000														33			37		0	0	0.006230	0	0
KCNH7	90134	broad.mit.edu	37	2	163302577	163302577	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:163302577A>G	uc002uch.2	-	6	1734	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	KCNH7_uc002uci.3_Missense_Mutation_p.V495A	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	502					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATTGCTGCAACCATGTCAAT	0.358000														22			12		0	0	0.001368	0	0
OBSCN	84033	broad.mit.edu	37	1	228479650	228479650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:228479650G>A	uc009xez.1	+	38	10435	c.10391G>A	c.(10390-10392)gGg>gAg	p.G3464E	OBSCN_uc001hsn.3_Missense_Mutation_p.G3464E|OBSCN_uc001hsq.1_Missense_Mutation_p.G720E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3464	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCGTGGAAGGGGCCACAGCC	0.592000														21			6		0	0	0.001984	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963188	73963188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73963188C>T	uc004eby.3	-	2	1821	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	402					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCCATTATCCTTTCCATCT	0.443000														36			68		0	0	0.003610	0	0
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4703813G>A	uc001lzk.2	-	1	373	c.129C>T	c.(127-129)atC>atT	p.I43I	OR51E2_uc021qcr.1_Silent_p.I43I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000														55			34		0	0	0.003755	0	0
DOT1L	84444	broad.mit.edu	37	19	2228276	2228276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:2228276C>T	uc002lvc.1	+	13	3796	c.3029C>T	c.(3028-3030)tCc>tTc	p.S1010F	DOT1L_uc002lvb.4_Intron	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1717						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGGCCGTCCGCGGTGTGG	0.711000														60			28		0	0	0.007291	0	0
AHNAK	79026	broad.mit.edu	37	11	62301156	62301156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:62301156G>A	uc001ntl.3	-	4	1033	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	245					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGGTGACCTGGAGCTTCGAG	0.597000														86			26		0	0	0.001786	0	0
ADAM18	8749	broad.mit.edu	37	8	39468107	39468107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39468107G>A	uc003xni.3	+	5	459	c.404G>A	c.(403-405)aGa>aAa	p.R135K	ADAM18_uc003xnh.3_Missense_Mutation_p.R135K|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Missense_Mutation_p.R135K	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	135					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TCTTCAGCAAGATTTGAGCAT	0.299000														41			17		0	0	0.004007	0	0
UPP1	7378	broad.mit.edu	37	7	48146552	48146552	+	Silent	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:48146552G>T	uc003toj.3	+	7	1048	c.519G>T	c.(517-519)ggG>ggT	p.G173G	UPP1_uc003tok.3_Silent_p.G173G|UPP1_uc003tol.3_Silent_p.G173G|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Silent_p.G36G	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	173					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.G173W(1)|p.L172P(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TTGTCCTGGGGAAGCGGGTCA	0.547000														97			48		3.21987e-24	5.85194e-24	0.003610	1	0
CFH	3075	broad.mit.edu	37	1	196694397	196694397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196694397G>A	uc001gtj.4	+	11	2083	c.1843G>A	c.(1843-1845)Gga>Aga	p.G615R	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	615	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTACCACTTTGGATTGTCTCC	0.358000														92			29		0	0	0.002445	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152561	50152561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50152561C>T	uc001zxu.3	-	27	3551	c.3409G>A	c.(3409-3411)Ggc>Agc	p.G1137S	ATP8B4_uc010ber.3_Missense_Mutation_p.G1010S|ATP8B4_uc010ufd.2_Missense_Mutation_p.G947S|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Missense_Mutation_p.G140S	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1137					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTCCATAGCCTTCTTGGTGA	0.488000														87			41		0	0	0.007835	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767876	77767876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:77767876C>T	uc003yau.2	+	9	9106	c.8719C>T	c.(8719-8721)Ccg>Tcg	p.P2907S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P2862S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2862						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K2906K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATAGCGGACCCGAGCTCCCC	0.502000										HNSCC(33;0.089)				28			8		0	0	0.004482	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733234	52733234	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:52733234T>A	uc003xqx.4	-	5	1092	c.751A>T	c.(751-753)Att>Ttt	p.I251F	PCMTD1_uc011ldm.2_Missense_Mutation_p.I121F|PCMTD1_uc011ldn.2_Missense_Mutation_p.I63F|PCMTD1_uc010lya.3_Missense_Mutation_p.I175F	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	251						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GTGCGTCGAATGTAAATACGA	0.378000														64			5		0	0	0.001168	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142161994	142161994	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:142161994G>A	uc011krx.2	-	1	296	c.281C>T	c.(280-282)cCg>cTg	p.P94L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.P94L					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		CAGCCTGAGCGGGAAATACTC	0.498000														132			77		0	0	0.003610	0	0
LHX4	89884	broad.mit.edu	37	1	180243421	180243421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:180243421G>A	uc001goe.2	+	5	1112	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	LOC100527964_uc001gof.2_Intron	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	294						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						CTCCATGGACGGGACAGGACA	0.532000														120			41		0	0	0.008740	0	0
COL28A1	340267	broad.mit.edu	37	7	7413017	7413017	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:7413017G>A	uc003src.1	-	31	2637	c.2520C>T	c.(2518-2520)atC>atT	p.I840I	COL28A1_uc011jxe.1_Silent_p.I523I	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	840	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGCTATAGTTGATTATGCCTA	0.483000														72			38		0	0	0.006999	0	0
ANO2	57101	broad.mit.edu	37	12	5708726	5708726	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:5708726C>T	uc001qnm.2	-	20	2229	c.2157G>A	c.(2155-2157)tcG>tcA	p.S719S		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	724						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGATGTTTCGAATGGGCAG	0.453000														94			56		0	0	0.003610	0	0
MIR491	574444	broad.mit.edu	37	9	20716105	20716105	+	Splice_Site	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:20716105T>G	uc022beb.1	+	1		c.1_splice	c.e1-1		FOCAD_uc003zog.1_Intron					Homo sapiens microRNA 491 (MIR491), microRNA.																		CTGTGGGAATTGACTTAGCTG	0.463000														30			19		0	0	0.001523	0	0
DBC1	1620	broad.mit.edu	37	9	121929737	121929737	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:121929737G>A	uc004bkc.2	-	7	2367	c.1911C>T	c.(1909-1911)ccC>ccT	p.P637P		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	637					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ACAGGTCCACGGGGCCCTGGC	0.557000														51			50		0	0	0.003610	0	0
PRL	5617	broad.mit.edu	37	6	22294707	22294707	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:22294707G>A	uc003ndp.3	-	1	654	c.135C>T	c.(133-135)gaC>gaT	p.D45D	PRL_uc003ndo.3_Silent_p.D46D|PRL_uc003ndq.3_Silent_p.D45D|PRL_uc003ndr.1_Non-coding_Transcript	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	45					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding	p.D45Y(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GGTCAAACAGGTCTCGAAGGG	0.597000														51			20		0	0	0.001523	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144854629	144854629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:144854629C>T	uc021ouh.1	-	41	7143	c.6841G>A	c.(6841-6843)Gaa>Aaa	p.E2281K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.E2281K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E2175K|PDE4DIP_uc001elv.4_Missense_Mutation_p.E1288K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2281					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTCTCAGTTCCAGAAGTTCC	0.488000			T	PDGFRB	MPD									273			31		0	0	0.001786	0	0
LOC645752	645752	broad.mit.edu	37	15	78211617	78211617	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:78211617C>T	uc010bky.2	-	10	914	c.150G>A	c.(148-150)gtG>gtA	p.V50V						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		GCTGTTCCACCACAGAGGTCA	0.572000														67			22		0	0	0.002299	0	0
HNF1B	6928	broad.mit.edu	37	17	36093701	36093701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:36093701C>T	uc002hok.4	-	2	879	c.658G>A	c.(658-660)Gat>Aat	p.D220N	HNF1B_uc021tvu.1_5'UTR|HNF1B_uc010wdi.2_Missense_Mutation_p.D194N|HNF1B_uc021tvv.1_Missense_Mutation_p.D220N|HNF1B_uc021tvw.1_Missense_Mutation_p.D194N|HNF1B_uc010cve.1_Missense_Mutation_p.D28N	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	220					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D220H(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CAGGCATCATCGGACTGCCCA	0.547000														367			163		0	0	0.003610	0	0
AGXT2	64902	broad.mit.edu	37	5	35039544	35039544	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35039544G>A	uc003jjf.3	-	2	490	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	AGXT2_uc011com.2_Nonsense_Mutation_p.Q83*|AGXT2_uc011con.2_5'UTR|AGXT2_uc021xxk.1_Nonsense_Mutation_p.Q82*	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	83					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	p.F82L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AGGGGTTTCTGGAAATATGCC	0.483000														47			23		0	0	0.004656	0	0
LAMA3	3909	broad.mit.edu	37	18	21469986	21469986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21469986G>A	uc002kuq.3	+	41	5401	c.5315G>A	c.(5314-5316)gGa>gAa	p.G1772E	LAMA3_uc002kur.3_Missense_Mutation_p.G1772E|LAMA3_uc002kus.4_Missense_Mutation_p.G163E|LAMA3_uc002kut.4_Missense_Mutation_p.G163E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1772	Domain III A.|Laminin EGF-like 14.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCACCGGGATATTTCGGG	0.478000														80			40		0	0	0.002852	0	0
LEPR	3953	broad.mit.edu	37	1	66031251	66031251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:66031251G>A	uc001dci.3	+	2	392	c.3G>A	c.(1-3)atG>atA	p.M1I	LEPR_uc001dcg.3_Missense_Mutation_p.M1I|LEPR_uc001dch.3_Missense_Mutation_p.M1I|LEPR_uc009waq.3_Missense_Mutation_p.M1I|LEPR_uc021ool.1_Missense_Mutation_p.M1I|LEPR_uc001dcj.3_Missense_Mutation_p.M1I|LEPR_uc001dck.3_Missense_Mutation_p.M1I	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	1					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAGTAAGATGATTTGTCAAA	0.318000														40			19		0	0	0.001882	0	0
DNAH3	55567	broad.mit.edu	37	16	21092965	21092965	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:21092965G>A	uc010vbe.2	-	19	2961	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	987	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTTTTCAACGAATTTGCCGA	0.443000														167			108		0	0	0.003610	0	0
ALOX5	240	broad.mit.edu	37	10	45938623	45938623	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45938623C>T	uc001jce.3	+	9	1509	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	ALOX5_uc009xmt.3_Silent_p.F438F|ALOX5_uc010qfg.2_Silent_p.F470F|ALOX5_uc021ppr.1_Intron	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	470	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCTACTACTTCTACCGGGACG	0.652000														164			81		0	0	0.003610	0	0
IQUB	154865	broad.mit.edu	37	7	123150013	123150013	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:123150013C>T	uc003vkn.3	-	2	1051	c.474G>A	c.(472-474)aaG>aaA	p.K158K	IQUB_uc003vko.3_Silent_p.K158K|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.K158K|IQUB_uc003vkq.2_Silent_p.K158K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	158	Ubiquitin-like.							p.L157V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAAAATGGTCCTTAAGATATT	0.318000														208			100		0	0	0.003610	0	0
CPA6	57094	broad.mit.edu	37	8	68536449	68536449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68536449C>T	uc003xxq.4	-	1	410	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Missense_Mutation_p.E52K	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	52					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCATATGCTTCCTCTTCTGTT	0.313000														57			14		0	0	0.006122	0	0
PPIB	5479	broad.mit.edu	37	15	64452372	64452372	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:64452372T>C	uc002and.3	-	2	443	c.274A>G	c.(274-276)Aaa>Gaa	p.K92E	PPIB_uc010bgx.1_Missense_Mutation_p.K84E	NM_000942	NP_000933	P23284	PPIB_HUMAN	Homo sapiens peptidylprolyl isomerase B (cyclophilin B) (PPIB), mRNA.	92	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGATGGAATTTGCTGTTTTTG	0.483000														62			19		0	0	0.001523	0	0
PTPRT	11122	broad.mit.edu	37	20	41101171	41101171	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:41101171G>A	uc002xkg.3	-	7	1369	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	PTPRT_uc010ggj.3_Silent_p.I395I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	395	Fibronectin type-III 2.		I -> V (in a colorectal cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGATGTCTACGATTTCCACGT	0.567000														35			15		0	0	0.007413	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:97726706C>T	uc021xbo.1	-	6		c.773G>A			GABRR3_uc021xbp.1_Intron	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000														13			9		0	0	0.004482	0	0
OR10G9	219870	broad.mit.edu	37	11	123893749	123893749	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:123893749C>T	uc010sad.2	+	0	30	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A9E(1)|p.A9V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACAGCGTTCATCCTCACGG	0.542000														75			56		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167088675	167088675	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167088675C>T	uc001geb.1	+	3	643	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	209	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGTCTGAGTTCCTGGATGAGG	0.532000														46			11		0	0	0.001368	0	0
KIAA1430	57587	broad.mit.edu	37	4	186083970	186083970	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:186083970G>A	uc003ixf.4	-	4	1728	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V		NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	527										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AAGCTGTACGGACATTAGGGG	0.443000														18			7		0	0	0.003080	0	0
LGI1	9211	broad.mit.edu	37	10	95552551	95552551	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95552551G>A	uc001kjc.4	+	5	891	c.555G>A	c.(553-555)gtG>gtA	p.V185V	LGI1_uc021pwk.1_Silent_p.V185V|LGI1_uc010qnv.2_Silent_p.V137V|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	185	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AATGGCTAGTGGAATGGCTTG	0.468000														89			41		0	0	0.002222	0	0
CACNA1E	777	broad.mit.edu	37	1	181689945	181689945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181689945C>T	uc009wxt.3	+	14	2105	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	CACNA1E_uc001gow.3_Missense_Mutation_p.S637L|CACNA1E_uc009wxs.3_Missense_Mutation_p.S637L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	637					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.S637S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGGACTCCTTCGGCAAATTTT	0.433000														28			5		0	0	0.001168	0	0
OR2G2	81470	broad.mit.edu	37	1	247751665	247751665	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247751665G>T	uc010pyy.2	+	0	4	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTTACATATGGGGATGGTGAG	0.413000														74			35		7.63091e-17	1.3822e-16	0.007835	1	0
FGFR2	2263	broad.mit.edu	37	10	123247617	123247617	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:123247617C>T	uc021pzz.1	-	13	2521	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	FGFR2_uc021pzv.1_Missense_Mutation_p.R513Q|FGFR2_uc021pzw.1_Missense_Mutation_p.R510Q|FGFR2_uc021pzx.1_Missense_Mutation_p.R536Q|FGFR2_uc021pzy.1_Missense_Mutation_p.R626Q|FGFR2_uc010qtl.2_Missense_Mutation_p.R509Q|FGFR2_uc010qtm.2_Missense_Mutation_p.R508Q|FGFR2_uc021qaa.1_Missense_Mutation_p.R626Q|FGFR2_uc021qab.1_Missense_Mutation_p.R537Q|FGFR2_uc021qac.1_Missense_Mutation_p.R554Q|FGFR2_uc001lfg.4_Missense_Mutation_p.R233Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	625	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGCTAAATCTCGATGAATACA	0.323000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					99			41		0	0	0.002522	0	0
KCNB1	3745	broad.mit.edu	37	20	47991420	47991420	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:47991420T>C	uc002xur.1	-	1	843	c.677A>G	c.(676-678)aAc>aGc	p.N226S	KCNB1_uc002xus.1_Missense_Mutation_p.N226S	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	226					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGCTGGGGGTTGTCTGTGGA	0.562000														47			25		0	0	0.004656	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410826	105410826	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:105410826C>T	uc010axc.1	-	6	11082	c.10962G>A	c.(10960-10962)ggG>ggA	p.G3654G	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.G3554G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3654			G -> E (in dbSNP:rs28380382).			nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGGACTTCCCTGGGGCCG	0.572000														143			44		0	0	0.003214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865109	140865109	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140865109C>T	uc003lky.2	+	0	369	c.369C>T	c.(367-369)atC>atT	p.I123I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Silent_p.I123I	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	123	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTAGAGATCGTAGATGTGA	0.577000														35			44		0	0	0.003610	0	0
APBA3	9546	broad.mit.edu	37	19	3752968	3752969	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:3752968_3752969GG>AA	uc002lyp.1	-	6	1208_1209	c.1031_1032CC>TT	c.(1030-1032)gcc>gTT	p.A344V	APBA3_uc002lyo.1_Missense_Mutation_p.A102V	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	344	PID.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCCAATGGCCTGGGCGAT	0.703000														55			14		0	0	0.004672	0	0
COL4A1	1282	broad.mit.edu	37	13	110850973	110850973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:110850973G>A	uc001vqw.4	-	20	1248	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	376	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCAGGTACAGGGAGGCCTGCA	0.517000														46			33		0	0	0.005524	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	A	A	rs3917742	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169578921G>A	uc001ggi.4	-	7	1219	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_uc001ggh.3_Missense_Mutation_p.S220L|SELP_uc009wvr.3_Missense_Mutation_p.S385L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000														41			10		0	0	0.008291	0	0
SPTLC3	55304	broad.mit.edu	37	20	13052903	13052904	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:13052903_13052904GG>AA	uc002wod.1	+	3	593	c.304_splice	c.e3-1	p.D102_splice		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	102					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGTTCTAACAGGATTTTGTGCC	0.426000														130			47		0	0	0.004672	0	0
NKAIN4	128414	broad.mit.edu	37	20	61875382	61875382	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:61875382C>T	uc002yek.3	-	4	616	c.526G>A	c.(526-528)Gac>Aac	p.D176N		NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 4 (NKAIN4), mRNA.	176						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCACAGCTGTCCTCTTCCTCC	0.637000														20			13		0	0	0.001855	0	0
MAEL	84944	broad.mit.edu	37	1	166973437	166973437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:166973437C>T	uc001gdy.1	+	5	615	c.544C>T	c.(544-546)Cct>Tct	p.P182S	MAEL_uc021peh.1_Missense_Mutation_p.P126S|MAEL_uc001gdz.1_Missense_Mutation_p.P151S|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	182					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCACAAGATTCCTATTTCAAA	0.388000														107			36		0	0	0.006230	0	0
STXBP5L	9515	broad.mit.edu	37	3	120998689	120998689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:120998689G>A	uc003eec.4	+	18	2136	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N	STXBP5L_uc011bji.2_Missense_Mutation_p.D666N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	666					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GGCTGTGGTGGATTTTATACA	0.378000														64			23		0	0	0.007291	0	0
CTBS	1486	broad.mit.edu	37	1	85020879	85020879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:85020879G>A	uc001dka.2	-	6	1026	c.961C>T	c.(961-963)Cct>Tct	p.P321S	CTBS_uc001dkc.3_Missense_Mutation_p.P230S|CTBS_uc001dkb.2_Missense_Mutation_p.P115S	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	321						lysosome	cation binding	p.P321H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TGGCCAGCAGGATCCTATATA	0.343000														27			6		0	0	0.001168	0	0
HECW2	57520	broad.mit.edu	37	2	197189721	197189721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:197189721G>A	uc002utm.1	-	5	907	c.724C>T	c.(724-726)Cca>Tca	p.P242S	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	242	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TGCCAAATTGGATTGGTGGTG	0.507000														121			67		0	0	0.003610	0	0
SCARA5	286133	broad.mit.edu	37	8	27823961	27823961	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:27823961G>A	uc003xgj.3	-	2	822	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	SCARA5_uc010luz.3_Silent_p.L71L|SCARA5_uc003xgk.3_Intron|SCARA5_uc003xgl.3_Silent_p.L71L	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	71					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ACAAGAATCAGGAAGACCAGC	0.547000														70			34		0	0	0.002096	0	0
PTPRB	5787	broad.mit.edu	37	12	70918312	70918312	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:70918312C>T	uc001swb.4	-	30	5940	c.5910G>A	c.(5908-5910)cgG>cgA	p.R1970R	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.R1880R|PTPRB_uc010stp.2_Silent_p.R1880R|PTPRB_uc001swc.4_Silent_p.R2188R|PTPRB_uc001swa.4_Silent_p.R2100R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1970					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTGTTCACTCCGTAGCTTTC	0.438000														38			16		0	0	0.004007	0	0
OR4N4	283694	broad.mit.edu	37	15	22383168	22383168	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22383168G>A	uc001yuc.1	+	6	1677	c.696G>A	c.(694-696)ggG>ggA	p.G232G	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Silent_p.G232G	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCTGAAGGGAAGAACAAGG	0.498000														128			38		0	0	0.004289	0	0
ADCY6	112	broad.mit.edu	37	12	49167277	49167277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49167277C>T	uc001rsh.4	-	14	3256	c.2596G>A	c.(2596-2598)Gac>Aac	p.D866N	ADCY6_uc001rsi.4_Missense_Mutation_p.D813N|ADCY6_uc001rsj.4_Missense_Mutation_p.D866N|ADCY6_uc010slw.1_Missense_Mutation_p.D97N|MIR4701_uc021qxl.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	866					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AGCAGTAGGTCATAGTTGTCA	0.517000														28			9		0	0	0.006214	0	0
ST3GAL5	8869	broad.mit.edu	37	2	86075166	86075166	+	Silent	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:86075166A>T	uc002sqq.1	-	3	609	c.480T>A	c.(478-480)ccT>ccA	p.P160P	ST3GAL5_uc010fgq.1_Silent_p.P32P|ST3GAL5_uc002sqp.1_Silent_p.P137P	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 5 (ST3GAL5), transcript variant 1, mRNA.	160					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACCCAAAAGGAGGATCGTACT	0.517000														176			87		0	0	0.003610	0	0
SLIT2	9353	broad.mit.edu	37	4	20493392	20493392	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:20493392T>C	uc003gpr.1	+	8	988	c.784T>C	c.(784-786)Tca>Cca	p.S262P	SLIT2_uc003gps.1_Missense_Mutation_p.S262P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	262					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.Q261R(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGTCACCAGTCATTTATGGC	0.403000														86			36		0	0	0.003610	0	0
RFTN1	23180	broad.mit.edu	37	3	16475377	16475377	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:16475377G>A	uc003cay.3	-	2	595	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	RFTN1_uc010hes.3_Silent_p.L69L	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	105						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCTTGATCAGGATGGCTCTA	0.587000														261			90		0	0	0.003610	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:84526400C>T	uc004eeq.3	+	9	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_uc004eep.3_Missense_Mutation_p.P618S|ZNF711_uc004eeo.3_Missense_Mutation_p.P618S|ZNF711_uc011mqy.1_Missense_Mutation_p.P217S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000														4			11		0	0	0.000978	0	0
GRID2	2895	broad.mit.edu	37	4	94128555	94128555	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:94128555G>A	uc011cdt.2	+	5	994	c.736_splice	c.e5-1	p.V246_splice	GRID2_uc010ikx.3_Splice_Site_p.V246_splice|GRID2_uc011cdu.2_Splice_Site_p.V151_splice|GRID2_uc011cdv.1_Splice_Site|GRID2_uc010ikz.1_Splice_Site	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	246					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTATTCTAGGTTGTGGAGAC	0.318000														69			31		0	0	0.002445	0	0
SSPO	23145	broad.mit.edu	37	7	149490701	149490701	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:149490701C>T	uc010lpk.3	+	39	6066	c.6066C>T	c.(6064-6066)gcC>gcT	p.A2022A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2025	VWFC 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCACTGTGCCCTACCTGGTG	0.647000														40			24		0	0	0.001786	0	0
OR2A14	135941	broad.mit.edu	37	7	143826882	143826882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:143826882G>A	uc011kua.2	+	0	677	c.677G>A	c.(676-678)aGg>aAg	p.R226K		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GCCATCTTGAGGATCCAGTCT	0.602000														114			57		0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20975582	20975582	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:20975582G>A	uc010vbe.2	-	52	9624	c.9624C>T	c.(9622-9624)atC>atT	p.I3208I	DNAH3_uc010vbd.2_Silent_p.I643I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3208	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGCAGCCACGATGCCAAGGA	0.473000														92			28		0	0	0.005443	0	0
C6orf201	404220	broad.mit.edu	37	6	4099400	4099400	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:4099400G>A	uc003mwa.4	+	2	1020	c.252G>A	c.(250-252)acG>acA	p.T84T	C6orf201_uc003mvz.4_Non-coding_Transcript|C6orf201_uc011dhw.1_Silent_p.T84T|C6orf201_uc003mwb.4_Non-coding_Transcript	NM_001085401	NP_001078870	Q7Z4U5	CF201_HUMAN	Homo sapiens chromosome 6 open reading frame 201 (C6orf201), mRNA.	84										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGAGAAACACGAAAGAGCCTC	0.413000														23			19		0	0	0.001523	0	0
ENPEP	2028	broad.mit.edu	37	4	111431465	111431465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:111431465C>T	uc003iab.4	+	5	1601	c.1259C>T	c.(1258-1260)tCt>tTt	p.S420F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	420					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGATTTGCTTCTTTCTTTGAG	0.373000														50			26		0	0	0.007291	0	0
ZNF786	136051	broad.mit.edu	37	7	148769495	148769495	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:148769495G>A	uc003wfh.2	-	3	506	c.369C>T	c.(367-369)tcC>tcT	p.S123S	ZNF786_uc011kuk.1_Silent_p.S86S|ZNF786_uc003wfi.2_Silent_p.S37S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S122S(2)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGATCCAAAGGAACACTGGC	0.507000														25			10		0	0	0.006214	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224479	172224479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:172224479G>A	uc003fid.3	-	4	772	c.649C>T	c.(649-651)Cct>Tct	p.P217S	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	217					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATAGGGTCAGGATAACTTGTG	0.338000														90			45		0	0	0.003214	0	0
CREM	1390	broad.mit.edu	37	10	35495854	35495854	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:35495854C>T	uc001iyb.3	+	6	795	c.630C>T	c.(628-630)atC>atT	p.I210I	CREM_uc001ixy.3_Silent_p.I6I|CREM_uc001ixz.3_Silent_p.I6I|CREM_uc001iya.3_Silent_p.I159I|CREM_uc001iyc.3_Silent_p.I131I|CREM_uc001iye.3_Silent_p.I147I|CREM_uc001iyd.3_Silent_p.I210I|CREM_uc001iyf.3_Silent_p.I180I|CREM_uc001iyg.3_Silent_p.I117I|CREM_uc001iyh.3_Silent_p.I155I|CREM_uc001iyi.3_Silent_p.I92I|CREM_uc001iyj.3_Silent_p.I89I|CREM_uc001iyk.3_Silent_p.I89I|CREM_uc001iyl.3_Silent_p.I31I|CREM_uc001iym.3_Silent_p.I31I|CREM_uc001iyn.3_Silent_p.I19I|CREM_uc001iyo.3_Silent_p.I19I|CREM_uc001iyp.3_Silent_p.I13I|CREM_uc001iyq.3_Silent_p.I23I|CREM_uc001iyr.3_Silent_p.I23I|CREM_uc001iys.3_Silent_p.I6I|CREM_uc001iyt.3_Silent_p.I6I	NM_181571	NP_853549	Q03060	CREM_HUMAN	Homo sapiens cAMP responsive element modulator (CREM), transcript variant 1, mRNA.	271					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I210I(2)|p.I23I(1)|p.I192I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTACCAGATCCGAGCTCCTA	0.458000														145			61		0	0	0.003610	0	0
DCTN1	1639	broad.mit.edu	37	2	74597462	74597462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74597462G>A	uc002skx.3	-	11	1456	c.1138C>T	c.(1138-1140)Ctt>Ttt	p.L380F	DCTN1_uc002skv.3_Missense_Mutation_p.L246F|DCTN1_uc002sku.3_Missense_Mutation_p.L246F|DCTN1_uc002skw.2_Missense_Mutation_p.L373F|DCTN1_uc010ffd.3_Missense_Mutation_p.L360F|DCTN1_uc002sky.3_Missense_Mutation_p.L343F	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	380					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGAAGAAAGATCCCGCATC	0.522000														40			17		0	0	0.004990	0	0
XDH	7498	broad.mit.edu	37	2	31571779	31571779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31571779G>A	uc002rnv.1	-	26	3116	c.3037C>T	c.(3037-3039)Cct>Tct	p.P1013S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1013					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.P1013H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TTCAGAAAAGGAACTGTAAAG	0.388000														26			18		0	0	0.001523	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515496	24515496	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24515496G>A	uc003nef.3	+	5	895	c.867G>A	c.(865-867)ctG>ctA	p.L289L	ALDH5A1_uc003neg.3_Silent_p.L276L	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	276					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CTGATCCTCTGGTGTCCAAAA	0.393000														65			28		0	0	0.006320	0	0
ZNF136	7695	broad.mit.edu	37	19	12297654	12297654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:12297654C>T	uc002mti.3	+	3	608	c.461C>T	c.(460-462)tCc>tTc	p.S154F	ZNF136_uc010xmh.2_Missense_Mutation_p.S88F	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	154					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TCTCACCACTCCTTTCGAACA	0.393000														35			12		0	0	0.001368	0	0
PHF12	57649	broad.mit.edu	37	17	27244350	27244350	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:27244350G>A	uc002hdg.1	-	6	1617	c.1087C>T	c.(1087-1089)Ccc>Tcc	p.P363S	PHF12_uc010wbb.1_Missense_Mutation_p.P345S|PHF12_uc002hdi.1_Missense_Mutation_p.P359S|PHF12_uc002hdj.1_Missense_Mutation_p.P363S|PHF12_uc010crw.1_Missense_Mutation_p.P66S|PHF12_uc002hdh.1_Missense_Mutation_p.P146S	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	363	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CGGTTAGGGGGGTGCTTCTTG	0.532000														92			37		0	0	0.006999	0	0
RBM47	54502	broad.mit.edu	37	4	40439812	40439812	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:40439812G>A	uc003gvc.2	-	3	1809	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	RBM47_uc003gvd.2_Missense_Mutation_p.P367S|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.P329S|RBM47_uc003gvg.1_Missense_Mutation_p.P367S	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	367						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCCCTGTTGGGCCCAATGAGC	0.642000														30			20		0	0	0.002299	0	0
KIAA0196	9897	broad.mit.edu	37	8	126073378	126073378	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:126073378A>G	uc003yrt.3	-	11	1796	c.1467T>C	c.(1465-1467)gaT>gaC	p.D489D	KIAA0196_uc011lir.2_Silent_p.D341D	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	489					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTAGAATCATCATAATTTA	0.348000														38			17		0	0	0.007413	0	0
C1orf168	199920	broad.mit.edu	37	1	57257916	57257916	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57257916T>C	uc001cym.4	-	1	976	c.570A>G	c.(568-570)ggA>ggG	p.G190G	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Silent_p.G190G	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	190								p.G190E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGTCTGGGCTCCTTTTGTTT	0.458000														84			30		0	0	0.002445	0	0
RLN3	117579	broad.mit.edu	37	19	14139075	14139075	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14139075G>A	uc002mxw.1	+	0	59	c.59G>A	c.(58-60)tGg>tAg	p.W20*	RLN3_uc010dzj.1_Nonsense_Mutation_p.W20*	NM_080864	NP_543140	Q8WXF3	REL3_HUMAN	Homo sapiens relaxin 3 (RLN3), mRNA.	20						extracellular region	hormone activity			endometrium(1)|lung(4)	5						GGGGAGCTGTGGCCGGGAGCT	0.647000														54			33		0	0	0.002096	0	0
SLC6A5	9152	broad.mit.edu	37	11	20625867	20625867	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:20625867G>A	uc001mqd.3	+	2	849	c.576G>A	c.(574-576)ggG>ggA	p.G192G	SLC6A5_uc009yic.3_Intron	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	192					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGGCCCGAGGGAACTGGTCCA	0.597000														86			53		0	0	0.003610	0	0
TMEM196	256130	broad.mit.edu	37	7	19765303	19765303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:19765303G>A	uc011jyg.2	-	2	378	c.293C>T	c.(292-294)tCc>tTc	p.S98F	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	104						integral to membrane		p.L98L(2)|p.Q97K(1)		breast(1)|large_intestine(1)|lung(4)	6						GTATAGGGAGGAAGTTTTCTT	0.502000														59			24		0	0	0.005443	0	0
DLK1	8788	broad.mit.edu	37	14	101200537	101200537	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:101200537C>T	uc001yhs.4	+	4	660	c.456C>T	c.(454-456)tcC>tcT	p.S152S	DLK1_uc001yhu.4_Silent_p.S152S|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	152	EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A151V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GCCGGGCCTCCCATGCCTCCT	0.632000														44			23		0	0	0.002299	0	0
NPC1	4864	broad.mit.edu	37	18	21148891	21148891	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21148891A>T	uc002kum.4	-	3	633	c.359T>A	c.(358-360)tTt>tAt	p.F120Y	NPC1_uc010xba.1_5'UTR	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	120					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACATTCAAAAACTGACTCTG	0.373000														44			19		0	0	0.008871	0	0
EGFR	1956	broad.mit.edu	37	7	55268881	55268881	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:55268881G>A	uc003tqk.3	+	25	3193	c.2947_splice	c.e25-1	p.G983_splice	EGFR_uc022adm.1_Splice_Site_p.G983_splice|EGFR_uc010kzg.2_Splice_Site_p.G938_splice|EGFR_uc022adn.1_Splice_Site_p.G938_splice|EGFR_uc011kco.2_Splice_Site_p.G930_splice	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	983					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTGCACCAGGGGGATGAAAG	0.512000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				70			39		0	0	0.008740	0	0
XIRP2	129446	broad.mit.edu	37	2	168099850	168099850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168099850G>A	uc002udx.3	+	8	2037	c.1948G>A	c.(1948-1950)Gat>Aat	p.D650N	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D475N|XIRP2_uc010fpq.3_Missense_Mutation_p.D428N|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	475					actin cytoskeleton organization	cell junction	actin binding	p.G649R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCCAGAGGAGATGTCTGCAC	0.433000														36			19		0	0	0.007413	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:7373626C>T	uc003mxl.2	-	4	1957	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E340K|CAGE1_uc003mxj.3_Missense_Mutation_p.E231K|CAGE1_uc003mxk.2_Missense_Mutation_p.E476K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAAC	0.398000														40			40		0	0	0.006230	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20385733	20385733	+	RNA	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20385733A>G	uc010gsf.1	-	12		c.2078T>C			PI4KAP1_uc010gsg.2_Non-coding_Transcript					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1 (PI4KAP1), non-coding RNA.																		TACTTCAAGAACTTGATTGTC	0.537000														19			3		0	0	0.004672	0	0
DEAF1	10522	broad.mit.edu	37	11	679729	679729	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:679729G>A	uc001lqq.1	-	7	1778	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.S273L	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	362					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CGGACTCTCTGATATGACAGC	0.627000														38			21		0	0	0.001523	0	0
FBXL13	222235	broad.mit.edu	37	7	102523914	102523914	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:102523914C>T	uc003vaq.2	-	14	1653	c.1226_splice	c.e14-1	p.G409_splice	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Splice_Site_p.G409_splice|FBXL13_uc003var.2_Splice_Site|FBXL13_uc003vas.2_Splice_Site_p.G409_splice	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	409										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCTTTTATTTCCTGTTTTTAA	0.313000														42			21		0	0	0.008871	0	0
C7	730	broad.mit.edu	37	5	40972530	40972530	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:40972530G>A	uc003jmh.3	+	14	2022	c.1908G>A	c.(1906-1908)ctG>ctA	p.L636L	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	636	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACCTGTACTGATGGATGGCA	0.413000														29			22		0	0	0.001523	0	0
SHANK3	85358	broad.mit.edu	37	22	51160790	51160790	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:51160790C>T	uc003bne.1	+	21	4577	c.4577C>T	c.(4576-4578)tCc>tTc	p.S1526F	SHANK3_uc003bnf.1_Missense_Mutation_p.S973F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1526										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GACACGCGTTCCCTGGGGGAG	0.667000														36			22		0	0	0.003330	0	0
FLT3	2322	broad.mit.edu	37	13	28622425	28622425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:28622425C>T	uc001urw.3	-	8	1274	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.D398N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	398					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATCCGTTATCAAGACCCTTT	0.403000			"""Mis, O"""		"""AML, ALL"""									98			41		0	0	0.003610	0	0
SLC6A11	6538	broad.mit.edu	37	3	10865057	10865057	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10865057C>T	uc003bvz.3	+	3	637	c.603C>T	c.(601-603)tcC>tcT	p.S201S	SLC6A11_uc003bvy.1_Silent_p.S201S	NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	201					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ATGCCACCTCCCCTGTCATGG	0.493000														79			18		0	0	0.006122	0	0
TGM3	7053	broad.mit.edu	37	20	2312663	2312663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:2312663G>A	uc002wfx.4	+	9	1446	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	450					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GACCAGGAAAGACAAGTGTTC	0.537000														72			27		0	0	0.008361	0	0
MUC2	4583	broad.mit.edu	37	11	1104206	1104206	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:1104206C>T	uc001lsx.1	+	50	8412	c.8385C>T	c.(8383-8385)ctC>ctT	p.L2795L		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5161						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCTGCGGGCTCCCCACCGGCA	0.701000														19			5		0	0	0.001168	0	0
TMC8	147138	broad.mit.edu	37	17	76134129	76134129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:76134129G>A	uc002jup.2	+	11	1775	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	TMC8_uc002juq.2_Missense_Mutation_p.E242K|TMC8_uc010wtr.1_Missense_Mutation_p.G170E|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	465						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GGCCTGGCTGGAACGGGAGGA	0.642000														62			23		0	0	0.004656	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504048	66504048	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:66504048C>T	uc002lkk.2	+	3	271	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CCDC102B_uc002lki.2_Silent_p.F16F|CCDC102B_uc002lkj.1_Silent_p.F16F	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	16										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CACAGATCTTCCAGATGCAAC	0.418000														38			25		0	0	0.003330	0	0
CYP4F2	8529	broad.mit.edu	37	19	15989613	15989613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15989613C>T	uc002nbs.1	-	12	1581	c.1531G>A	c.(1531-1533)Gga>Aga	p.G511R	CYP4F2_uc010xot.1_Missense_Mutation_p.G362R	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	511					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGCCAAAGTCCGCCCTCTGCG	0.617000														16			9		0	0	0.008291	0	0
NPHS2	7827	broad.mit.edu	37	1	179533877	179533877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179533877G>A	uc001gmq.4	-	1	411	c.326C>T	c.(325-327)tCc>tTc	p.S109F	NPHS2_uc009wxi.3_Missense_Mutation_p.S109F	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	109					excretion	integral to plasma membrane	protein binding	p.S109F(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAAGAGCAGGGAAATGAGGAC	0.413000														60			18		0	0	0.001882	0	0
ADH1C	126	broad.mit.edu	37	4	100273856	100273856	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100273856C>T	uc021xqi.1	-	0		c.62G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCTCTGCAGACCAGGAGGCTG	0.353000														69			28		0	0	0.003271	0	0
IDO2	169355	broad.mit.edu	37	8	39847324	39847324	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39847324C>T	uc010lwy.1	+	7	915	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR|IDO2_uc003xnp.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	212					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACTGTCTATTCAGGACATCAC	0.562000											OREG0018729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			5		0	0	0.001168	0	0
CALCA	796	broad.mit.edu	37	11	14990422	14990422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:14990422C>T	uc001mlv.1	-	3	400	c.349G>A	c.(349-351)Gga>Aga	p.G117R	CALCA_uc001mlt.2_Intron|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.G117R	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	120					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CTTTTCTTTCCAGGTGCTCCA	0.507000														101			49		0	0	0.003610	0	0
DNAH17	8632	broad.mit.edu	37	17	76481835	76481835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:76481835G>A	uc010dhp.2	-	46	7405	c.7280C>T	c.(7279-7281)tCt>tTt	p.S2427F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTGGACCAAAGAGGCCTGGGG	0.612000														51			19		0	0	0.002780	0	0
DUSP27	92235	broad.mit.edu	37	1	167097203	167097203	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167097203G>A	uc001geb.1	+	4	2851	c.2835G>A	c.(2833-2835)gaG>gaA	p.E945E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	945	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.T944K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAGGACGGAGGAAAAACCTC	0.507000														41			15		0	0	0.004990	0	0
RGPD3	653489	broad.mit.edu	37	2	107041631	107041631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:107041631C>T	uc010ywi.1	-	19	2849	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	931					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTTGATTTCCTGGTTCCGA	0.408000														137			62		0	0	0.003610	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16525148	16525148	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16525148G>A	uc001ayc.1	-	15	2480	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L	ARHGEF19_uc009voo.1_Silent_p.L134L	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	781					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTTTCGGAGGCGGGCGC	0.637000														62			28		0	0	0.007291	0	0
PTGIS	5740	broad.mit.edu	37	20	48130814	48130814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:48130814G>A	uc002xut.3	-	6	1028	c.974C>T	c.(973-975)tCg>tTg	p.S325L	PTGIS_uc010zyi.2_Missense_Mutation_p.S186L	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	325					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	p.S325S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTCGTCTGCGAGACAGGCTG	0.572000														55			22		0	0	0.001882	0	0
PACS2	23241	broad.mit.edu	37	14	105846165	105846165	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:105846165C>T	uc001yqu.3	+	10	1554	c.1050_splice	c.e10+1	p.P350_splice	PACS2_uc001yqs.2_Splice_Site_p.P275_splice|PACS2_uc001yqt.3_Splice_Site_p.P350_splice|PACS2_uc001yqv.3_Splice_Site_p.P350_splice	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	350					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCCCCAAGCCCGGTGAGTGGG	0.652000														28			17		0	0	0.006122	0	0
ZADH2	284273	broad.mit.edu	37	18	72913660	72913660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:72913660G>A	uc002llx.3	-	1	1113	c.845C>T	c.(844-846)tCg>tTg	p.S282L	ZADH2_uc010dqv.3_Missense_Mutation_p.S159L	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	282						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TTTCACAGGCGAAAGGCCAGT	0.507000														46			32		0	0	0.003271	0	0
ST7	7982	broad.mit.edu	37	7	116859203	116859203	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:116859203G>A	uc003vin.3	+	13	1685	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	ST7_uc011knl.2_Missense_Mutation_p.E468K|ST7_uc003vio.3_Missense_Mutation_p.E468K|ST7_uc003viq.3_Missense_Mutation_p.E445K|ST7_uc011knm.2_Missense_Mutation_p.E448K|ST7_uc003vir.3_Missense_Mutation_p.E411K	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	Homo sapiens suppression of tumorigenicity 7 (ST7), transcript variant b, mRNA.	491						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AATCTGTACAGAAACAGCAGA	0.458000														161			62		0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536765	37536765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:37536765G>A	uc002xje.3	+	9	1312	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E333K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	375					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAGTGCAGCTGAGGATCAGCG	0.602000														48			24		0	0	0.003954	0	0
MAPK4	5596	broad.mit.edu	37	18	48256132	48256132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48256132G>A	uc002lev.3	+	5	2672	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	MAPK4_uc010xdm.2_Missense_Mutation_p.D347N|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	558					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGACCTGCCGGACAATAAACT	0.677000														30			11		0	0	0.000978	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40652861	40652861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:40652861C>T	uc002hzs.3	+	15	2004	c.1837C>T	c.(1837-1839)Cca>Tca	p.P613S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.P606S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.P606S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.P563S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.P563S|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.P252S|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.P465S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	606					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TGAGAATGCACCAAGCCTTCT	0.413000														128			41		0	0	0.007835	0	0
SMARCA4	6597	broad.mit.edu	37	19	11097640	11097640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:11097640G>A	uc010dxp.3	+	5	1180	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	SMARCA4_uc010dxo.3_Missense_Mutation_p.G274S|SMARCA4_uc002mqf.4_Missense_Mutation_p.G274S|SMARCA4_uc002mqg.1_Missense_Mutation_p.G274S|SMARCA4_uc010dxq.3_Missense_Mutation_p.G274S|SMARCA4_uc010dxr.3_Missense_Mutation_p.G274S|SMARCA4_uc002mqj.4_Missense_Mutation_p.G274S|SMARCA4_uc010dxs.3_Missense_Mutation_p.G274S|SMARCA4_uc002mqe.2_Missense_Mutation_p.G274S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	274	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGGATGCCAGGCCAGCCTCC	0.627000			"""F, N, Mis"""		NSCLC									48			16		0	0	0.007413	0	0
IL7	3574	broad.mit.edu	37	8	79652309	79652309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:79652309C>T	uc003ybg.3	-	2	757	c.156G>A	c.(154-156)atG>atA	p.M52I	IL7_uc022awh.1_Missense_Mutation_p.M52I|IL7_uc022awi.1_Missense_Mutation_p.M52I|IL7_uc022awj.1_Missense_Mutation_p.M52I|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	52					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						CAATTTCTTTCATGCTGTCCT	0.229000														25			14		0	0	0.004007	0	0
PSG11	5680	broad.mit.edu	37	19	43519301	43519301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43519301C>T	uc002ovm.1	-	3	1038	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E189K|PSG11_uc002ovo.1_Missense_Mutation_p.E189K	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	311	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTGGAGCTTTCCTCGCCAGTG	0.463000														39			46		0	0	0.003610	0	0
TLR6	10333	broad.mit.edu	37	4	38829909	38829909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38829909C>T	uc010ifg.2	-	1	1307	c.1186G>A	c.(1186-1188)Ggt>Agt	p.G396S	TLR6_uc003gtm.3_Missense_Mutation_p.G396S	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	396					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCATGAGACCTACTTTGAAA	0.353000														61			36		0	0	0.003271	0	0
RYR3	6263	broad.mit.edu	37	15	33603283	33603283	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:33603283C>T	uc001zhi.3	+	0	107	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	RYR3_uc010bar.3_Nonsense_Mutation_p.Q13*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	13					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACGAGATCCAGTTTCTGAG	0.756000														40			19		0	0	0.008871	0	0
POTEG	404785	broad.mit.edu	37	14	19553567	19553567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:19553567G>A	uc001vuz.1	+	0	203	c.151G>A	c.(151-153)Gat>Aat	p.D51N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	51										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGACCACGACGATTCTGCTAT	0.602000														564			36		0	0	0.003610	0	0
PADI3	51702	broad.mit.edu	37	1	17597374	17597374	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:17597374G>A	uc001bai.3	+	8	872	c.832_splice	c.e8-1	p.D278_splice		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	278					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCCCTGCAGGATTTCTCGGC	0.577000														30			22		0	0	0.001882	0	0
PLCZ1	89869	broad.mit.edu	37	12	18837205	18837205	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:18837205G>A	uc021qvx.1	-	13	1791	c.1600C>T	c.(1600-1602)Cca>Tca	p.P534S	PLCZ1_uc001rdv.4_Missense_Mutation_p.P430S|PLCZ1_uc001rdw.4_Missense_Mutation_p.P275S|PLCZ1_uc001rdu.1_Missense_Mutation_p.P316S|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	534	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCATCTTGGACTAAAAGCT	0.284000														81			31		0	0	0.003755	0	0
FAT4	79633	broad.mit.edu	37	4	126370046	126370046	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:126370046A>G	uc003ifj.4	+	8	7875	c.7875A>G	c.(7873-7875)caA>caG	p.Q2625Q	FAT4_uc011cgp.2_Silent_p.Q923Q|FAT4_uc003ifi.1_Silent_p.Q103Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2625	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ctattagtcaacctctggatt	0.398000														16			11		0	0	0.008291	0	0
LHCGR	3973	broad.mit.edu	37	2	48921445	48921445	+	Splice_Site	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:48921445T>A	uc002rwu.4	-	10	937	c.867_splice	c.e10-1	p.E289_splice	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	289					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AAATTCTGTCTGAAAGAGAAG	0.338000														10			6		0	0	0.001168	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341893	79341893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:79341893G>A	uc002beq.3	-	3	944	c.569C>T	c.(568-570)tCc>tTc	p.S190F	RASGRF1_uc002bep.3_Missense_Mutation_p.S190F|RASGRF1_uc010blm.1_Missense_Mutation_p.S112F|RASGRF1_uc002ber.4_Missense_Mutation_p.S190F	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	190					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGTCTGGGTGGACTGGATGCG	0.552000														55			12		0	0	0.001855	0	0
KRT18P55	284085	broad.mit.edu	37	17	26603749	26603749	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:26603749C>T	uc002has.3	-	2	1213	c.726G>A	c.(724-726)aaG>aaA	p.K242K						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		GCAGCTTCTCCTTGAGAGCCT	0.517000														15			5		0	0	0.000602	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778222	31778222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31778222C>T	uc003nxh.3	-	1	1711	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	HSPA1L_uc010jte.3_Missense_Mutation_p.G510S|HSPA1L_uc021yuz.1_Missense_Mutation_p.G510S	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	510					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCAGGCGGCCCTTGTCATTG	0.493000														573			210		0	0	0.003610	0	0
PIWIL1	9271	broad.mit.edu	37	12	130845883	130845883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:130845883G>A	uc001uik.3	+	14	2095	c.1824G>A	c.(1822-1824)atG>atA	p.M608I	PIWIL1_uc001uij.2_Missense_Mutation_p.M608I	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	608	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	P granule|chromatoid body	mRNA binding|piRNA binding|protein binding	p.Q607H(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCCTACAGATGAACTGCAAGA	0.463000														30			27		0	0	0.008361	0	0
MUC16	94025	broad.mit.edu	37	19	8976814	8976814	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8976814G>A	uc002mkp.3	-	72	42456	c.42252C>T	c.(42250-42252)tcC>tcT	p.S14084S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S884S|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14114				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGAGATTGGAGATGGTGA	0.572000														54			15		0	0	0.004007	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21459858	21459858	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21459858C>T	uc001rer.3	-	3	651	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	SLCO1A2_uc010siq.2_Missense_Mutation_p.E2K|SLCO1A2_uc001res.3_Missense_Mutation_p.E134K|SLCO1A2_uc010sio.2_Missense_Mutation_p.E2K|SLCO1A2_uc010sip.2_Missense_Mutation_p.E2K|SLCO1A2_uc001ret.3_Missense_Mutation_p.E132K|SLCO1A2_uc001reu.2_Missense_Mutation_p.E114K	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	134					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTTCCATTTTCCATACACAAG	0.343000														48			23		0	0	0.004656	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825650	52825650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:52825650C>T	uc004drc.1	-	1	97	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	33										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AGGACTAAGTCCCTGTTTGGT	0.398000														8			36		0	0	0.006230	0	0
HMGCL	3155	broad.mit.edu	37	1	24130998	24130998	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:24130998C>T	uc001bib.3	-	7	812	c.768G>A	c.(766-768)gtG>gtA	p.V256V	HMGCL_uc010oec.2_Silent_p.V185V|HMGCL_uc001bic.3_Silent_p.V231V|HMGCL_uc009vqs.1_Silent_p.V149V|HMGCL_uc021oii.1_Silent_p.V61V	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CAGAAGAGTCCACGACACTCA	0.542000														40			13		0	0	0.001368	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431806	56431806	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56431806C>T	uc010rjm.2	+	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCATCATCTTCATCTCCTATA	0.488000														96			38		0	0	0.007835	0	0
OTOF	9381	broad.mit.edu	37	2	26725247	26725247	+	Missense_Mutation	SNP	G	A	A	rs138720253		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:26725247G>A	uc002rhk.3	-	6	758	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	211					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCTAGCCGAATGGCCAGA	0.562000														21			14		0	0	0.004990	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43552900	43552900	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:43552900G>A	uc002ija.3	-	3	659	c.489C>T	c.(487-489)ttC>ttT	p.F163F	PLEKHM1_uc010wjm.2_Silent_p.F135F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Silent_p.F112F|PLEKHM1_uc021tym.1_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	163	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGCTAAGGAGGAACTCGCCCT	0.592000														52			15		0	0	0.002450	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481489	27481489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:27481489C>T	uc002dov.2	-	30	4794	c.4754G>A	c.(4753-4755)aGg>aAg	p.R1585K	GTF3C1_uc002dou.3_Missense_Mutation_p.R1585K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1585						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCCGGGATCCTGACATCCAC	0.557000														118			63		0	0	0.003610	0	0
FN1	2335	broad.mit.edu	37	2	216289985	216289985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:216289985G>A	uc002vfa.3	-	6	1134	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FN1_uc002vfc.3_Missense_Mutation_p.R290C|FN1_uc002vfe.3_Missense_Mutation_p.R290C|FN1_uc002vff.3_Missense_Mutation_p.R290C|FN1_uc002vfg.3_Missense_Mutation_p.R290C|FN1_uc002vfh.3_Missense_Mutation_p.R290C|FN1_uc002vfi.3_Missense_Mutation_p.R290C|FN1_uc002vfj.3_Missense_Mutation_p.R290C|FN1_uc002vfb.3_Missense_Mutation_p.R290C|FN1_uc002vfl.3_Missense_Mutation_p.R290C	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	290					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCACGAACATCGGTG	0.527000														122			55		0	0	0.003610	0	0
OR2T33	391195	broad.mit.edu	37	1	248436937	248436937	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248436937G>A	uc010pzi.2	-	0	180	c.180C>T	c.(178-180)ctC>ctT	p.L60L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L60P(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTGGCTCAGGAGGAAGTACA	0.537000														104			44		0	0	0.003610	0	0
ABCA6	23460	broad.mit.edu	37	17	67114069	67114069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67114069C>T	uc002jhw.1	-	10	1640	c.1465G>A	c.(1465-1467)Gga>Aga	p.G489R		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	489	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.K488Q(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CCAGATTTTCCTTTATATTCC	0.313000														64			18		0	0	0.007413	0	0
C3	718	broad.mit.edu	37	19	6696664	6696664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6696664C>T	uc002mfm.3	-	21	2865	c.2803G>A	c.(2803-2805)Gga>Aga	p.G935R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	935					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATTCTGATTCCTTCCGGCTAC	0.582000														144			49		0	0	0.003610	0	0
OR5C1	392391	broad.mit.edu	37	9	125551786	125551786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125551786C>T	uc011lzd.2	+	0	575	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTGGCCATCTCGTGCAGTGAC	0.532000														26			23		0	0	0.003954	0	0
TRIM9	114088	broad.mit.edu	37	14	51475933	51475933	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:51475933T>C	uc001wyx.4	-	4	1936	c.1171A>G	c.(1171-1173)Aga>Gga	p.R391G	TRIM9_uc001wyy.2_Missense_Mutation_p.R391G|TRIM9_uc001wyz.4_Missense_Mutation_p.R391G	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	391	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TGCACTCTTCTTATGAGGGCG	0.507000														56			11		0	0	0.000978	0	0
PROP1	5626	broad.mit.edu	37	5	177421205	177421205	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:177421205C>T	uc003mif.1	-	1	553	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	82					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCAGCTGTTCCAACTGCACT	0.662000														29			39		0	0	0.006230	0	0
RPTN	126638	broad.mit.edu	37	1	152129199	152129199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152129199C>T	uc001ezs.1	-	2	441	c.376G>A	c.(376-378)Gag>Aag	p.E126K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	126	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTTTCTTCCTCGTGCCTCTGT	0.547000														240			95		0	0	0.003610	0	0
CP	1356	broad.mit.edu	37	3	148925385	148925385	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:148925385A>G	uc003ewy.4	-	4	1054	c.801T>C	c.(799-801)ttT>ttC	p.F267F	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Silent_p.F48F|CP_uc003ewz.3_Silent_p.F267F|CP_uc010hvf.1_5'UTR	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	267	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGAGACTTCCAAAAGTGTATC	0.403000														38			28		0	0	0.008361	0	0
FGFR2	2263	broad.mit.edu	37	10	123279680	123279680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:123279680C>T	uc021pzz.1	-	6	1399	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FGFR2_uc021pzv.1_Intron|FGFR2_uc021pzw.1_Missense_Mutation_p.R136Q|FGFR2_uc021pzx.1_Missense_Mutation_p.R162Q|FGFR2_uc021pzy.1_Missense_Mutation_p.R251Q|FGFR2_uc010qtl.2_Missense_Mutation_p.R251Q|FGFR2_uc010qtm.2_Missense_Mutation_p.R136Q|FGFR2_uc021qaa.1_Missense_Mutation_p.R251Q|FGFR2_uc021qab.1_Missense_Mutation_p.R162Q|FGFR2_uc021qac.1_Missense_Mutation_p.R181Q|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.R270Q|FGFR2_uc010qto.2_Missense_Mutation_p.R155Q|FGFR2_uc001lfo.1_Missense_Mutation_p.R270Q|FGFR2_uc010qtp.2_Missense_Mutation_p.R270Q|FGFR2_uc001lfg.4_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	251					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.R251Q(2)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGAGGCGATCGCTCTGGTGG	0.562000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					19			11		0	0	0.001855	0	0
OR4K5	79317	broad.mit.edu	37	14	20388834	20388835	+	Nonsense_Mutation	DNP	CC	AT	AT	rs144511665	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20388834_20388835CC>AT	uc010tkw.2	+	0	69_70	c.69_70CC>AT	c.(67-72)ctccag>ctATag	p.Q24*		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCAAAAACTCCAGCTTTTCTA	0.406000														123			27		0	0	0.004672	0	0
CATSPERB	79820	broad.mit.edu	37	14	92150271	92150271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:92150271C>T	uc001xzs.1	-	10	1021	c.881G>A	c.(880-882)gGa>gAa	p.G294E		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	294					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCACAGTTTTCCTTTCACATA	0.254000														73			30		0	0	0.007291	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555903	155555903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:155555903G>A	uc002tyv.1	+	0	811	c.616G>A	c.(616-618)Gac>Aac	p.D206N	KCNJ3_uc010zce.1_Missense_Mutation_p.D206N|KCNJ3_uc021vrh.1_Missense_Mutation_p.D206N	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	206					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCCATGAGGGACGGAAAACT	0.592000														21			7		0	0	0.001984	0	0
DTL	51514	broad.mit.edu	37	1	212273810	212273810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:212273810C>T	uc009xdc.3	+	13	1792	c.1478C>T	c.(1477-1479)cCa>cTa	p.P493L	DTL_uc010ptb.2_Missense_Mutation_p.P451L|DTL_uc001hiz.4_Missense_Mutation_p.P222L	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	493					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCTCCCAAGCCACCTTCATCT	0.507000														83			26		0	0	0.003330	0	0
GRIA2	2891	broad.mit.edu	37	4	158257857	158257857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:158257857C>T	uc003ipm.4	+	10	2261	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F	GRIA2_uc011cit.2_Missense_Mutation_p.S554F|GRIA2_uc003ipl.4_Missense_Mutation_p.S601F|GRIA2_uc003ipk.4_Missense_Mutation_p.S554F|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.S601F(3)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTCTGGTTTTCCTTGGGTGCC	0.433000														82			49		0	0	0.003610	0	0
SORBS2	8470	broad.mit.edu	37	4	186545621	186545621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:186545621G>A	uc003iyg.3	-	12	1324	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.S417F|SORBS2_uc003iyl.3_Missense_Mutation_p.S317F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.S221F|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	317						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R431C(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ACTGCAAAGGGATGGACATAT	0.473000														48			21		0	0	0.003330	0	0
ZNF318	24149	broad.mit.edu	37	6	43305585	43305585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:43305585G>A	uc003oux.3	-	9	6229	c.6151C>T	c.(6151-6153)Cct>Tct	p.P2051S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2051					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CACCCTATAGGTGATACAGAA	0.463000														49			52		0	0	0.003610	0	0
BMP3	651	broad.mit.edu	37	4	81967371	81967371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:81967371C>T	uc003hmg.4	+	1	1116	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	266					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCGGAATTTTCCCACTGGAAC	0.498000														73			45		0	0	0.002522	0	0
KIAA1109	84162	broad.mit.edu	37	4	123207914	123207914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:123207914G>A	uc003ieh.3	+	50	9301	c.9256G>A	c.(9256-9258)Gga>Aga	p.G3086R	KIAA1109_uc003iel.1_Missense_Mutation_p.G1021R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3086					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTATTTACAGGGAAATTATCT	0.328000														39			18		0	0	0.006122	0	0
MYRIP	25924	broad.mit.edu	37	3	40231347	40231347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:40231347G>A	uc003cka.3	+	9	1193	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.G353E|MYRIP_uc010hhw.3_Missense_Mutation_p.G264E|MYRIP_uc011ayz.2_Missense_Mutation_p.G166E|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	353	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.S350fs*4(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGCCCCGACGGGAACTGGGTG	0.587000														94			33		0	0	0.004878	0	0
KIAA1217	56243	broad.mit.edu	37	10	24784106	24784106	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:24784106G>A	uc001iru.4	+	7	2218	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	KIAA1217_uc001irs.3_Silent_p.R525R|KIAA1217_uc001irt.4_Silent_p.R570R|KIAA1217_uc010qcy.2_Silent_p.R570R|KIAA1217_uc010qcz.2_Silent_p.R570R|KIAA1217_uc001irv.1_Silent_p.R420R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.R288R|KIAA1217_uc001irz.3_Silent_p.R288R|KIAA1217_uc001irx.3_Silent_p.R288R|KIAA1217_uc001iry.3_Silent_p.R288R	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	605					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAGCCAACAGGAACCACACAG	0.423000														30			16		0	0	0.001882	0	0
FABP12	646486	broad.mit.edu	37	8	82441671	82441671	+	Splice_Site	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:82441671A>C	uc011lfp.2	-	2	246	c.246_splice	c.e2+1	p.K82_splice	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	82							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CGTAGGCCTCACCTTTGTTTT	0.373000														118			43		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181724502	181724502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181724502G>A	uc009wxt.3	+	27	4153	c.3958G>A	c.(3958-3960)Gac>Aac	p.D1320N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1320N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1301N|CACNA1E_uc001gox.1_Missense_Mutation_p.D546N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1320					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTATTGCACGGACAGTTCCAA	0.458000														205			58		0	0	0.003610	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734669	37734669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:37734669C>T	uc003xkm.2	-	1	828	c.772G>A	c.(772-774)Gat>Aat	p.D258N	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.D258N|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.D106N	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	258					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCATCTTCATCCCACTGGGAC	0.512000														55			25		0	0	0.004656	0	0
C8A	731	broad.mit.edu	37	1	57347274	57347274	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57347274G>A	uc001cyo.2	+	4	753	c.621G>A	c.(619-621)cgG>cgA	p.R207R		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	207	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R207W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATACTTTCGGAAACCCTACA	0.498000														43			21		0	0	0.002780	0	0
BTG1	694	broad.mit.edu	37	12	92537893	92537894	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:92537893_92537894GG>AT	uc001tby.3	-	1	840_841	c.478_479CC>AT	c.(478-480)cct>ATt	p.P160I	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA.	160					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				GTTTTTGGAAGGGCTCGTTCTG	0.446000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			34		0	0	0.004672	0	0
DHRS9	10170	broad.mit.edu	37	2	169938197	169938197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:169938197G>A	uc010zdc.2	+	1	398	c.286G>A	c.(286-288)Gga>Aga	p.G96R	DHRS9_uc002uep.3_Missense_Mutation_p.G36R|DHRS9_uc002ueq.3_Missense_Mutation_p.G36R|DHRS9_uc002uer.1_Missense_Mutation_p.G36R|DHRS9_uc010zdd.2_Missense_Mutation_p.G36R|DHRS9_uc010zde.2_Missense_Mutation_p.G36R	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	36					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTTTATCACTGGATGTGACTC	0.418000														63			27		0	0	0.004656	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657767	20657767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:20657767G>A	uc001ytg.3	-	15	2211	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.S501L|HERC2P3_uc010tyy.2_Missense_Mutation_p.S501L|HERC2P3_uc010tyz.1_3'UTR					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTCGGTCCCGATGGGTTCTC	0.537000														47			13		0	0	0.002450	0	0
GINS4	84296	broad.mit.edu	37	8	41387742	41387742	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:41387742C>T	uc003xnx.3	+	1	231	c.21C>T	c.(19-21)ttC>ttT	p.F7F	GINS4_uc022aug.1_Non-coding_Transcript	NM_032336	NP_115712	Q9BRT9	SLD5_HUMAN	Homo sapiens GINS complex subunit 4 (Sld5 homolog) (GINS4), mRNA.	7					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTGGATTTCCTGGGACAGG	0.463000														51			25		0	0	0.006320	0	0
TRRAP	8295	broad.mit.edu	37	7	98586570	98586570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:98586570C>T	uc003upp.3	+	61	9793	c.9584C>T	c.(9583-9585)tCg>tTg	p.S3195L	TRRAP_uc011kis.2_Missense_Mutation_p.S3166L|TRRAP_uc003upr.3_Missense_Mutation_p.S2883L	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3195	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGAGCAAATCGAGGAAATAC	0.502000														27			6		0	0	0.001168	0	0
TMEM67	91147	broad.mit.edu	37	8	94792928	94792928	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:94792928C>T	uc011lgk.2	+	7	893	c.822C>T	c.(820-822)atC>atT	p.I274I	TMEM67_uc010mat.1_Silent_p.I189I|TMEM67_uc010maw.2_Intron|TMEM67_uc003yga.4_Silent_p.I193I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	274					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTCAGTTTATCTTTGAAAATA	0.338000														112			49		0	0	0.003610	0	0
FRY	10129	broad.mit.edu	37	13	32776087	32776087	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:32776087C>T	uc001utx.3	+	29	4252	c.3756C>T	c.(3754-3756)ccC>ccT	p.P1252P	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAACTATCCCTTCGACATAG	0.393000														67			26		0	0	0.005443	0	0
LCE5A	254910	broad.mit.edu	37	1	152484251	152484251	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152484251C>T	uc021oyx.1	+	0	241	c.241C>T	c.(241-243)Cga>Tga	p.R81*	LCE5A_uc001ezy.3_Nonsense_Mutation_p.R81*|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	81	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677000														42			15		0	0	0.001523	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132123	121132123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121132123G>A	uc003eec.4	+	24	3279	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	STXBP5L_uc011bji.2_Missense_Mutation_p.E1023K	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1047					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		CTCTCCTACTGAAATTCAGCG	0.383000														37			25		0	0	0.003954	0	0
DDX60	55601	broad.mit.edu	37	4	169176882	169176882	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169176882G>A	uc003irp.3	-	25	3829	c.3537C>T	c.(3535-3537)tcC>tcT	p.S1179S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	1179							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTCTCTATGGATTTTTTAA	0.348000														44			16		0	0	0.006122	0	0
TYRO3	7301	broad.mit.edu	37	15	41861141	41861141	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:41861141C>T	uc001zof.2	+	8	1409	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	391	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGACCTGATCGTACGTGTGT	0.587000														56			5		0	0	0.000602	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948416	82948416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:82948416C>T	uc003kim.3	-	1	399	c.328G>A	c.(328-330)Ggt>Agt	p.G110S	HAPLN1_uc003kin.3_Missense_Mutation_p.G110S	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	110	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G110C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AACACTCTACCCTGGTAGCCT	0.438000														82			34		0	0	0.003271	0	0
ITIH5	80760	broad.mit.edu	37	10	7628007	7628007	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:7628007A>C	uc021pmv.1	-	7	1071	c.965T>G	c.(964-966)cTc>cGc	p.L322R	ITIH5_uc021pmu.1_Missense_Mutation_p.L108R|ITIH5_uc001ijr.2_Missense_Mutation_p.L322R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	322	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAGGTCATGGAGAATTGTGAA	0.488000														39			12		0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13824398	13824398	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13824398C>T	uc003jfd.2	-	38	6531	c.6489G>A	c.(6487-6489)cgG>cgA	p.R2163R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2163	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCCCAAGGTCCGAAGAACTG	0.423000									Kartagener syndrome					28			14		0	0	0.003163	0	0
SIM1	6492	broad.mit.edu	37	6	100838545	100838545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:100838545G>A	uc003pqj.4	-	10	2460	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C	SIM1_uc021zdg.1_Missense_Mutation_p.R665C|SIM1_uc010kcu.3_Missense_Mutation_p.R665C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	665	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R665R(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTTGAAATGCGATCCGAATTG	0.458000														130			7		0	0	0.001984	0	0
GPX5	2880	broad.mit.edu	37	6	28501787	28501787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:28501787C>T	uc003nll.2	+	4	511	c.509C>T	c.(508-510)tCc>tTc	p.S170F	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	170					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	AAATCTATATCCTGGGACCCT	0.493000														208			66		0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117232288	117232288	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:117232288G>A	uc003vjd.3	+	13	2199	c.2067G>A	c.(2065-2067)caG>caA	p.Q689Q	CFTR_uc011knq.2_Silent_p.Q95Q	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	689					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTTTAAACAGACTGGAGAGT	0.358000									Cystic Fibrosis					27			7		0	0	0.001984	0	0
LOXL2	4017	broad.mit.edu	37	8	23225654	23225655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:23225654_23225655GG>AA	uc003xdh.1	-	1	549_550	c.210_211CC>TT	c.(208-213)ggccgg>ggTTgg	p.R71W		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	71	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R71W(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACCCGGCCCTCGCTGT	0.653000														66			24		0	0	0.004672	0	0
CD86	942	broad.mit.edu	37	3	121838290	121838290	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121838290A>T	uc003eet.3	+	6	1027	c.899A>T	c.(898-900)aAa>aTa	p.K300I	CD86_uc011bjo.2_Missense_Mutation_p.K218I|CD86_uc011bjp.2_Missense_Mutation_p.K188I|CD86_uc003eeu.3_Missense_Mutation_p.K294I|CD86_uc021xcz.1_Missense_Mutation_p.K246I	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	300					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TCCAGAGAAAAAATCCATATA	0.333000														39			17		0	0	0.008871	0	0
C8orf74	203076	broad.mit.edu	37	8	10555383	10555383	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:10555383G>A	uc003wtd.1	+	2	545	c.516G>A	c.(514-516)acG>acA	p.T172T	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	172								p.L171V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CCACACTGACGGAGGCCGAGG	0.687000														33			15		0	0	0.002450	0	0
ACTC1	70	broad.mit.edu	37	15	35084372	35084372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:35084372C>T	uc001ziu.1	-	4	970	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	243					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TCAGGCAGTTCATAGCTCTTC	0.512000														51			23		0	0	0.002299	0	0
CFB	629	broad.mit.edu	37	6	31918679	31918679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31918679C>T	uc003nyj.4	+	13	2091	c.1813C>T	c.(1813-1815)Cga>Tga	p.R605*	CFB_uc011dor.2_Nonsense_Mutation_p.R1107*	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	605	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGAACAACTCGAGCTTTGAG	0.527000														376			119		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179599613	179599613	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179599613A>G	uc021vsy.1	-	47	11531	c.11306T>C	c.(11305-11307)gTt>gCt	p.V3769A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V430A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4696							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L3769I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACCAAGTAACCTGGATCAC	0.413000														30			15		0	0	0.002450	0	0
MYLIP	29116	broad.mit.edu	37	6	16145341	16145341	+	Silent	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:16145341A>T	uc003nbq.3	+	5	1278	c.1041A>T	c.(1039-1041)tcA>tcT	p.S347S	MYLIP_uc003nbr.3_Silent_p.S166S	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	347					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			AGAGCCCTTCACACTCGCCTC	0.542000														136			52		0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175092667	175092667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175092667G>A	uc001gkl.1	+	11	2895	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	928	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R927S(1)|p.R927M(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGACCAGGGAGGTTCCGGT	0.622000														65			15		0	0	0.006122	0	0
ASB15	142685	broad.mit.edu	37	7	123254628	123254628	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:123254628C>T	uc003vku.1	+	3	364	c.72C>T	c.(70-72)tcC>tcT	p.S24S	ASB15_uc003vkv.1_Silent_p.S24S|ASB15_uc003vkw.1_Silent_p.S24S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	24					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCAAGAATCCATTGAAGCCA	0.348000														223			91		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181727103	181727103	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181727103C>T	uc009wxt.3	+	30	4545	c.4350C>T	c.(4348-4350)gcC>gcT	p.A1450A	CACNA1E_uc001gow.3_Silent_p.A1450A|CACNA1E_uc009wxs.3_Silent_p.A1431A|CACNA1E_uc001gox.1_Silent_p.A676A	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1450					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGACTTCGCCATCAGCGCCA	0.522000														139			43		0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84311139	84311139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:84311139G>A	uc021zcf.1	-	14	1205	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.S390F|SNAP91_uc011dze.2_Missense_Mutation_p.S390F|SNAP91_uc003pkc.3_Missense_Mutation_p.S390F|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S355F	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	392	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GGGAACAGAGGAAAGTGCAGC	0.443000														16			15		0	0	0.003163	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350521	51350521	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:51350521C>T	uc001zyy.3	-	2	536	c.436G>A	c.(436-438)Gat>Aat	p.D146N		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	146								p.F145L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TAGAGCTCATCAAAGATCTCG	0.448000														109			40		0	0	0.006230	0	0
LCE2D	353141	broad.mit.edu	37	1	152636901	152636901	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152636901G>A	uc021ozb.1	+	0	320	c.320G>A	c.(319-321)gGg>gAg	p.G107E	LCE2D_uc001fag.3_Missense_Mutation_p.G107E	NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	Homo sapiens late cornified envelope 2D (LCE2D), mRNA.	107	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCTGGGGGCTGCTGC	0.592000														93			34		0	0	0.003271	0	0
SCN9A	6335	broad.mit.edu	37	2	167137049	167137049	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:167137049A>G	uc010fpl.3	-	13	2469	c.2128T>C	c.(2128-2130)Ttc>Ctc	p.F710L	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	721			C -> Y (found in a patient with severe myoclonic epilepsy in infancy).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGATCAAGAATTTGTGTGCA	0.363000														10			5		0	0	0.000602	0	0
APOL4	80832	broad.mit.edu	37	22	36587653	36587654	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:36587653_36587654CC>TA	uc003aox.3	-	5	747_748	c.522_523GG>TA	c.(520-525)ggggta>ggTAta	p.V175I	APOL4_uc003aow.3_Missense_Mutation_p.V172I|APOL4_uc010gww.3_Missense_Mutation_p.V18I	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	176					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						CCCAGCCCTACCCCAGCTGCAG	0.569000														5			10		0	0	0.004672	0	0
THNSL2	55258	broad.mit.edu	37	2	88478479	88478479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:88478479C>T	uc002ssy.4	+	3	2440	c.749C>T	c.(748-750)cCc>cTc	p.P250L	THNSL2_uc002ssw.4_Missense_Mutation_p.P250L|THNSL2_uc002sta.4_Missense_Mutation_p.P92L|THNSL2_uc010fhe.3_Missense_Mutation_p.P92L|THNSL2_uc021vkr.1_Missense_Mutation_p.P250L	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	250					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GACACACATCCCCTACCCCTG	0.557000														118			55		0	0	0.003610	0	0
TLN1	7094	broad.mit.edu	37	9	35705814	35705814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:35705814G>A	uc003zxt.2	-	41	5900	c.5546C>T	c.(5545-5547)tCc>tTc	p.S1849F		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1849	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCACGAAGGAACCTTCTGG	0.552000														44			56		0	0	0.003610	0	0
COX7A2	1347	broad.mit.edu	37	6	75950054	75950054	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:75950054G>A	uc003phv.2	-	2	350	c.252C>T	c.(250-252)gcC>gcT	p.A84A	COX7A2_uc021zbx.1_Non-coding_Transcript	NM_001865	NP_001856	P14406	CX7A2_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 (liver) (COX7A2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	52						mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			kidney(2)|lung(1)	3						TATACAGGAGGGCATCAGCTA	0.343000														55			25		0	0	0.002445	0	0
GAD1	2571	broad.mit.edu	37	2	171687702	171687702	+	Splice_Site	SNP	G	A	A	rs111361241		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:171687702G>A	uc002ugi.3	+	5	969	c.547_splice	c.e5+1	p.G183_splice	GAD1_uc002ugh.3_Splice_Site_p.G183_splice	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	183					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGTTCGCACAGGTAAGGAGGA	0.522000														82			33		0	0	0.004878	0	0
MYOM2	9172	broad.mit.edu	37	8	2048802	2048802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2048802G>A	uc003wpx.4	+	19	2715	c.2577G>A	c.(2575-2577)tgG>tgA	p.W859*	MYOM2_uc011kwi.2_Nonsense_Mutation_p.W284*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	859	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGAGAGTGGATCACTGTAA	0.527000														33			21		0	0	0.002299	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290748	20290748	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:20290748G>A	uc001iqg.1	+	1	794	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PLXDC2_uc001iqh.1_Missense_Mutation_p.E53K	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	53						integral to membrane		p.E52D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CACAGAGGAGGAGGTGGAAGT	0.478000														27			19		0	0	0.001882	0	0
C1orf61	10485	broad.mit.edu	37	1	156376906	156376906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156376906G>A	uc001fou.1	-	5	662	c.389C>T	c.(388-390)tCt>tTt	p.S130F	BC016978_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	130						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					aagagccaaagagctggtgct	0.448000														39			17		0	0	0.004007	0	0
FLT4	2324	broad.mit.edu	37	5	180050958	180050958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:180050958C>T	uc003mlz.4	-	10	1604	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	FLT4_uc003mma.4_Missense_Mutation_p.E509K|FLT4_uc003mmb.1_Missense_Mutation_p.E42K|FLT4_uc011dgy.2_Missense_Mutation_p.E509K	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	509	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCACAAACTCGGTCCAGGTG	0.617000														33			37		0	0	0.006230	0	0
IL7R	3575	broad.mit.edu	37	5	35871172	35871172	+	Missense_Mutation	SNP	C	T	T	rs104893894		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35871172C>T	uc003jjs.3	+	3	483	c.394C>T	c.(394-396)Cct>Tct	p.P132S	IL7R_uc011coo.2_Missense_Mutation_p.P132S|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	132	Fibronectin type-III.		P -> S (in T(-)/B(+)/NK(+) SCID).		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACCTGAGGCTCCTTTTGACCT	0.358000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							54			31		0	0	0.005524	0	0
SERPINA3	12	broad.mit.edu	37	14	95081291	95081291	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:95081291G>A	uc001ydp.3	+	1	672	c.513G>A	c.(511-513)caG>caA	p.Q171Q	SERPINA3_uc001ydo.4_Silent_p.Q196Q|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.Q171Q|SERPINA3_uc001yds.3_Silent_p.Q171Q	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	171					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		CTGACTTTCAGGACTCAGCTG	0.498000														61			29		0	0	0.005443	0	0
SFTA2	389376	broad.mit.edu	37	6	30899847	30899847	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30899847G>A	uc003nsf.3	-	0	106	c.27C>T	c.(25-27)ctC>ctT	p.L9L		NM_205854	NP_995326	Q6UW10	SFTA2_HUMAN	Homo sapiens surfactant associated 2 (SFTA2), mRNA.	9						extracellular region				lung(2)	2						GGGTCAAGAGGAGGACAAGGG	0.607000														34			10		0	0	0.001368	0	0
FBLN2	2199	broad.mit.edu	37	3	13660510	13660510	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:13660510C>T	uc011avc.2	+	6	2428	c.2046C>T	c.(2044-2046)acC>acT	p.T682T	FBLN2_uc011auz.2_Silent_p.T708T|FBLN2_uc011avb.2_Silent_p.T682T|FBLN2_uc011ava.2_Silent_p.T682T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	682	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCCCAATACCTGCAAAGGTA	0.627000														18			8		0	0	0.004482	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254246	39254246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39254246G>A	uc010wfo.2	-	0	130	c.91C>T	c.(91-93)Cag>Tag	p.Q31*		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	31	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CAGGTGGTCTGACAGCAGCTG	0.632000														38			8		0	0	0.003080	0	0
SCAI	286205	broad.mit.edu	37	9	127791959	127791959	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:127791959A>G	uc004bpd.3	-	4	481	c.359T>C	c.(358-360)gTt>gCt	p.V120A	SCAI_uc004bpe.3_Missense_Mutation_p.V97A|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	97	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTGGTGTAAACATCAAAAGT	0.343000														15			31		0	0	0.005524	0	0
IL27	246778	broad.mit.edu	37	16	28515226	28515226	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:28515226G>A	uc002dqc.3	-	1	200	c.177C>T	c.(175-177)tcC>tcT	p.S59S	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	59			S -> A (in dbSNP:rs17855750).		inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCCGAACCTCGGAGAGCAGCT	0.652000														37			33		0	0	0.004289	0	0
ARID2	196528	broad.mit.edu	37	12	46242662	46242662	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:46242662C>T	uc001ros.1	+	12	1624	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_uc001ror.3_Nonsense_Mutation_p.R542*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.R169*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343000			"""N, S, F"""		hepatocellular carcinoma									19			18		0	0	0.004990	0	0
ODZ3	55714	broad.mit.edu	37	4	183672970	183672970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:183672970G>A	uc003ivd.1	+	18	3722	c.3647G>A	c.(3646-3648)aGa>aAa	p.R1216K	ODZ3_uc003ive.1_Missense_Mutation_p.R629K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1216					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCAGCTCATAGATACTACCTT	0.428000														85			44		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9088160	9088160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9088160G>A	uc002mkp.3	-	0	3859	c.3655C>T	c.(3655-3657)Ccc>Tcc	p.P1219S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1219	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1219S(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCCAAGGGAACCAGGGTG	0.502000														194			181		0	0	0.003610	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526211	150526211	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150526211C>T	uc009wlw.3	+	4	902	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADAMTSL4_uc001euw.3_Silent_p.P248P|ADAMTSL4_uc001eux.3_Silent_p.P248P|ADAMTSL4_uc010pcg.2_Silent_p.P248P	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	248					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGCCTGCCCCCCTACGGCATC	0.637000														54			23		0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164748583	164748583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:164748583C>T	uc003fei.3	-	24	2872	c.2809G>A	c.(2809-2811)Gaa>Aaa	p.E937K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	937	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTTTCATTTTCTGAGAAAATT	0.313000										HNSCC(35;0.089)				88			37		0	0	0.004289	0	0
RBP3	5949	broad.mit.edu	37	10	48388700	48388700	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:48388700G>A	uc001jez.3	-	0	2292	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	726	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TAAGGTAGGTGAGCTCCTCTG	0.622000														46			22		0	0	0.002780	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874923	80874923	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:80874923C>T	uc010ysh.2	+	17	2793	c.2788C>T	c.(2788-2790)Cga>Tga	p.R930*	CTNNA2_uc010yse.2_Nonsense_Mutation_p.R882*|CTNNA2_uc010ysf.2_Nonsense_Mutation_p.R882*|CTNNA2_uc010ysg.2_Nonsense_Mutation_p.R837*|CTNNA2_uc010ysi.2_Nonsense_Mutation_p.R514*|CTNNA2_uc010ysj.2_Nonsense_Mutation_p.R211*	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	930					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GACACGAGTTCGACGAGGTTC	0.443000														134			73		0	0	0.003610	0	0
LZTS2	84445	broad.mit.edu	37	10	102763365	102763365	+	Silent	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:102763365C>G	uc001ksj.3	+	2	680	c.510C>G	c.(508-510)acC>acG	p.T170T	LZTS2_uc010qpw.2_Silent_p.T170T|LZTS2_uc001ksk.3_Silent_p.T170T|LZTS2_uc001ksl.3_Silent_p.T170T|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	170	Required for centrosomal localization (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTCGGGCCACCGGGCTGTCTG	0.642000														89			35		0	0	0.002445	0	0
MYLK3	91807	broad.mit.edu	37	16	46744694	46744694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:46744694C>T	uc002eei.4	-	10	2238	c.2122G>A	c.(2122-2124)Ggc>Agc	p.G708S	MYLK3_uc010vge.2_Missense_Mutation_p.G367S	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	708	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GGGGACAAGCCACTGAGTCTA	0.463000														82			60		0	0	0.003610	0	0
INSRR	3645	broad.mit.edu	37	1	156811546	156811546	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156811546G>A	uc010pht.2	-	19	3737	c.3438C>T	c.(3436-3438)taC>taT	p.Y1146Y	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1146	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CACCCTTGCGGTAATAGTCTG	0.612000														101			38		0	0	0.006999	0	0
SYCP1	6847	broad.mit.edu	37	1	115527431	115527431	+	Missense_Mutation	SNP	G	A	A	rs147186440		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115527431G>A	uc001efr.3	+	29	2854	c.2645G>A	c.(2644-2646)aGa>aAa	p.R882K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R882K|SYCP1_uc009wgw.3_Missense_Mutation_p.R857K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	882					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.K881fs*21(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAAAAAAGAGAAAAATGGCC	0.254000														78			40		0	0	0.002852	0	0
KIAA0564	23078	broad.mit.edu	37	13	42249370	42249370	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:42249370G>A	uc001uyj.3	-	35	4460	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1464						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GGGATATATCGGAGTTTCTTT	0.333000														34			14		0	0	0.004990	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:53770583C>T	uc010ydu.2	-	0	336	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(2)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)				14			10		0	0	0.000978	0	0
KDM6B	23135	broad.mit.edu	37	17	7754526	7754526	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7754526C>T	uc002gix.3	+	3	2604	c.1767C>T	c.(1765-1767)tcC>tcT	p.S589S	KDM6B_uc002giw.1_Silent_p.S1287S	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1287	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGCCTCATCCTTCCAGGAGT	0.607000														25			36		0	0	0.006999	0	0
PAPLN	89932	broad.mit.edu	37	14	73726128	73726128	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:73726128C>T	uc010ttx.2	+	14	2023	c.1860C>T	c.(1858-1860)ccC>ccT	p.P620P	PAPLN_uc001xnw.4_Silent_p.P593P|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.P620P|PAPLN_uc010arm.3_5'Flank|PAPLN_uc010arn.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	620						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCAGCAACCCCTGCGGTCGG	0.697000														22			13		0	0	0.001368	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860885	183860885	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:183860885A>T	uc003fmp.3	+	11	2064	c.1700A>T	c.(1699-1701)gAg>gTg	p.E567V	EIF2B5_uc003fmq.3_Missense_Mutation_p.E288V	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	567	W2.				RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGCAAAGAGGAGAACATTTCT	0.473000														37			11		0	0	0.000978	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802039	185802039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185802039C>T	uc002uph.3	+	3	2510	c.1916C>T	c.(1915-1917)tCa>tTa	p.S639L		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	639						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAACCAATTTCAGAAAAGCAG	0.358000														132			55		0	0	0.003610	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935127	73935127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73935127G>A	uc003pgm.4	-	0	49	c.5C>T	c.(4-6)gCc>gTc	p.A2V	KHDC1_uc011dyl.1_Non-coding_Transcript	NM_001126063	NP_001119535	Q5JSQ8	KHDCL_HUMAN	Homo sapiens KH homology domain containing 1-like (KHDC1L), mRNA.	2										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						CGTTCCCACGGCCATGCTGTG	0.532000														10			6		0	0	0.001168	0	0
STON2	85439	broad.mit.edu	37	14	81744721	81744721	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:81744721T>C	uc010tvu.2	-	3	1132	c.934A>G	c.(934-936)Acc>Gcc	p.T312A	STON2_uc001xvk.1_Missense_Mutation_p.T312A|STON2_uc010tvt.2_Missense_Mutation_p.T109A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	312					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAAGGGTTGGTTGCCCTCCAA	0.498000														86			37		0	0	0.003755	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261767	23261767	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23261767A>G	uc001yvh.1	+	10	1178	c.636A>G	c.(634-636)gaA>gaG	p.E212E	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						TCTCAGCTGAACCCTTGCCCC	0.577000														64			22		0	0	0.004656	0	0
OBFC1	79991	broad.mit.edu	37	10	105642577	105642577	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:105642577G>A	uc001kxl.3	-	8	1047	c.972C>T	c.(970-972)ttC>ttT	p.F324F	OBFC1_uc001kxm.3_Silent_p.F324F	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	324					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGATGTGCAGGAAGTGACAGC	0.587000														36			15		0	0	0.006122	0	0
ATP8B4	79895	broad.mit.edu	37	15	50212483	50212483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50212483C>T	uc001zxu.3	-	17	2025	c.1883G>A	c.(1882-1884)cGa>cAa	p.R628Q	ATP8B4_uc010ber.3_Missense_Mutation_p.R501Q|ATP8B4_uc010ufd.2_Missense_Mutation_p.R438Q|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	628					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R628*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCCAGCTATTCGTTCATCCCT	0.403000														73			34		0	0	0.002836	0	0
NMS	129521	broad.mit.edu	37	2	101086963	101086963	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:101086963C>T	uc002tan.1	+	0	20	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	5					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R5H(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GAAACATCTTCGTCCCCAGTT	0.552000														84			49		0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39613368	39613368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:39613368C>T	uc003xnj.3	-	15	1751	c.1676G>A	c.(1675-1677)aGa>aAa	p.R559K	ADAM2_uc003xnk.3_Missense_Mutation_p.R540K|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	559	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P558S(1)|p.R559*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AATAGTGGCTCTTGGAATTTG	0.308000														56			27		0	0	0.001786	0	0
FRMPD2	143162	broad.mit.edu	37	10	49448441	49448441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:49448441G>A	uc001jgi.3	-	5	993	c.662C>T	c.(661-663)cCa>cTa	p.P221L	FRMPD2_uc001jgh.3_Missense_Mutation_p.P190L|FRMPD2_uc001jgj.3_Missense_Mutation_p.P190L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	221					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGTGCCGCTGGGCTCTCGCT	0.587000														24			16		0	0	0.004007	0	0
PRKCQ	5588	broad.mit.edu	37	10	6525506	6525506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6525506G>A	uc001iji.1	-	9	1258	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	PRKCQ_uc001ijj.2_Missense_Mutation_p.L359F|PRKCQ_uc009xim.2_Missense_Mutation_p.L359F|PRKCQ_uc009xin.2_Missense_Mutation_p.L323F|PRKCQ_uc010qax.2_Missense_Mutation_p.L234F	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	359	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GGTTCTGGAAGATGGCACATT	0.413000														54			37		0	0	0.003755	0	0
PCDH18	54510	broad.mit.edu	37	4	138452857	138452857	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:138452857T>C	uc003ihe.4	-	0	773	c.386A>G	c.(385-387)gAt>gGt	p.D129G	PCDH18_uc003ihf.4_Missense_Mutation_p.D122G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_5'UTR|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	129	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D129H(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCATTAATATCCAGCACTTC	0.428000														55			38		0	0	0.004289	0	0
CPS1	1373	broad.mit.edu	37	2	211525356	211525356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:211525356C>T	uc010fur.3	+	32	4004	c.3922C>T	c.(3922-3924)Cct>Tct	p.P1308S	CPS1_uc002vee.4_Missense_Mutation_p.P1302S|CPS1_uc010fus.3_Missense_Mutation_p.P851S	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1302					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TCCCATAATTCCTGCTGACTA	0.343000														69			25		0	0	0.007291	0	0
PODN	127435	broad.mit.edu	37	1	53544160	53544160	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:53544160G>A	uc001cuv.3	+	7	1290	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	PODN_uc010onr.2_Silent_p.A355A|PODN_uc010ons.2_Silent_p.A232A|PODN_uc001cuw.3_Silent_p.A355A	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	326					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.A374A(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGTGGACGCGAATGTGCTGA	0.652000														56			23		0	0	0.001882	0	0
AMPD3	272	broad.mit.edu	37	11	10518445	10518445	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:10518445A>G	uc001min.1	+	9	1889	c.1544A>G	c.(1543-1545)aAc>aGc	p.N515S	AMPD3_uc010rbz.1_Missense_Mutation_p.N347S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.N506S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.N513S|AMPD3_uc009yfy.2_Missense_Mutation_p.N506S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	506					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GCCACTATCAACCCCCAAGAT	0.507000														89			42		0	0	0.002222	0	0
TGIF1	7050	broad.mit.edu	37	18	3452062	3452062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:3452062C>T	uc002klz.3	+	0	472	c.85C>T	c.(85-87)Cca>Tca	p.P29S	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	29					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TGATTCCTTTCCATGGCCCGC	0.672000														83			38		0	0	0.003610	0	0
ZNF74	7625	broad.mit.edu	37	22	20749677	20749677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20749677C>T	uc010gsm.3	+	2	301	c.89C>T	c.(88-90)tCg>tTg	p.S30L	ZNF74_uc002zsg.3_5'UTR|ZNF74_uc002zsh.3_Missense_Mutation_p.S30L|ZNF74_uc002zsi.3_Intron|ZNF74_uc010gsn.3_5'UTR	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	Homo sapiens zinc finger protein 74 (ZNF74), transcript variant 1, mRNA.	30					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGGATATATCGGGTTGGGGT	0.542000														59			33		0	0	0.005524	0	0
CNTN5	53942	broad.mit.edu	37	11	99872775	99872775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99872775G>A	uc001pga.3	+	8	1391	c.887G>A	c.(886-888)gGa>gAa	p.G296E	CNTN5_uc009ywv.2_Missense_Mutation_p.G296E|CNTN5_uc001pfz.3_Missense_Mutation_p.G296E|CNTN5_uc021qpb.1_Missense_Mutation_p.G296E|CNTN5_uc021qpc.1_Missense_Mutation_p.G222E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	296					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GGTGTGATGGGAGAATATGAG	0.363000														9			7		0	0	0.003080	0	0
GABRB3	2562	broad.mit.edu	37	15	26793000	26793000	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:26793000G>A	uc001zbb.3	-	9	1633	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	GABRB3_uc021sgg.1_Silent_p.I383I|GABRB3_uc021sgh.1_Silent_p.I369I|GABRB3_uc001zaz.3_Silent_p.I454I|GABRB3_uc001zba.3_Silent_p.I454I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	454					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATGGAAACACGATCCTGGACC	0.398000														55			25		0	0	0.003954	0	0
ABCA3	21	broad.mit.edu	37	16	2333205	2333205	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2333205G>A	uc002cpy.1	-	25	4729	c.4017C>T	c.(4015-4017)ctC>ctT	p.L1339L	ABCA3_uc010bsk.1_Silent_p.L1281L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1339					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GCCTCCTCCGGAGGGCGCAGA	0.657000														28			13		0	0	0.001855	0	0
CERS2	29956	broad.mit.edu	37	1	150938687	150938687	+	Silent	SNP	T	C	C	rs147381709		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150938687T>C	uc001evy.3	-	10	1506	c.1080A>G	c.(1078-1080)gcA>gcG	p.A360A	CERS2_uc001evz.3_Silent_p.A360A|CERS2_uc009wmh.3_Silent_p.A210A	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	360						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GCCGGCTCTTTGCTCCTCCCC	0.537000														117			33		0	0	0.003755	0	0
IGSF10	285313	broad.mit.edu	37	3	151171407	151171407	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151171407C>T	uc011bod.2	-	2	480	c.480G>A	c.(478-480)ttG>ttA	p.L160L		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	160					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATTTCCTTCCAAGTGCACCA	0.423000														43			25		0	0	0.003330	0	0
GK5	256356	broad.mit.edu	37	3	141891283	141891283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:141891283G>A	uc003euq.2	-	12	1311	c.1159C>T	c.(1159-1161)Ccc>Tcc	p.P387S	GK5_uc003eup.1_Missense_Mutation_p.P108S|GK5_uc010hus.2_Non-coding_Transcript	NM_001039547	NP_001034636	Q6ZS86	GLPK5_HUMAN	Homo sapiens glycerol kinase 5 (putative) (GK5), transcript variant 1, mRNA.	387					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						CATGCCCAGGGGTCATTTAAT	0.353000														42			24		0	0	0.002780	0	0
OR2G6	391211	broad.mit.edu	37	1	248685202	248685202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248685202G>A	uc001ien.1	+	0	255	c.255G>A	c.(253-255)atG>atA	p.M85I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGTTACCATGAATAAGAAAG	0.522000														88			50		0	0	0.003610	0	0
SCN1A	6323	broad.mit.edu	37	2	166894598	166894598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:166894598C>T	uc002udo.4	-	16	2861	c.2634G>A	c.(2632-2634)atG>atA	p.M878I	SCN1A_uc010fpk.3_Missense_Mutation_p.M850I|SCN1A_uc021vsb.1_Missense_Mutation_p.M867I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	878						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCTTTATTAGCATATTTAACG	0.388000														36			7		0	0	0.004482	0	0
LAMA1	284217	broad.mit.edu	37	18	6958515	6958515	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:6958515G>T	uc002knm.3	-	54	8019	c.7925C>A	c.(7924-7926)tCg>tAg	p.S2642*	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Nonsense_Mutation_p.S95*|LAMA1_uc010wzj.2_Nonsense_Mutation_p.S2118*	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2642	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCATGGAACGATCTTCTCAT	0.463000														62			17		9.16793e-09	1.65392e-08	0.004990	1	0
LOC401127	401127	broad.mit.edu	37	4	39482951	39482951	+	RNA	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:39482951G>A	uc011byn.2	+	0		c.1077G>A								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		AACTTCAGACGAAAGAGATTG	0.438000														28			18		0	0	0.006122	0	0
BMPER	168667	broad.mit.edu	37	7	34182955	34182955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:34182955C>T	uc011kap.2	+	14	2233	c.1859C>T	c.(1858-1860)cCt>cTt	p.P620L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	620					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CACTGGGAGCCTCAGCAGAAT	0.483000														44			11		0	0	0.008291	0	0
USP50	373509	broad.mit.edu	37	15	50833252	50833252	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:50833252G>A	uc021sky.1	-	3	834	c.654C>T	c.(652-654)tcC>tcT	p.S218S	USP50_uc021skx.1_Silent_p.S120S	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	218					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CTACCCGAAGGGAGCATTCAT	0.433000														27			11		0	0	0.001368	0	0
MYCT1	80177	broad.mit.edu	37	6	153043050	153043050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:153043050G>A	uc003qpc.4	+	1	378	c.370G>A	c.(370-372)Gga>Aga	p.G124R		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	124						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CAACAGAACTGGATTTTACCG	0.522000														40			36		0	0	0.004289	0	0
TAS2R38	5726	broad.mit.edu	37	7	141673373	141673373	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141673373C>T	uc003vwx.1	-	0	201	c.117G>A	c.(115-117)gtG>gtA	p.V39V		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CCCAAAAATTCACCAAGAAAA	0.493000														45			23		0	0	0.001882	0	0
CD86	942	broad.mit.edu	37	3	121825089	121825089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121825089G>A	uc003eet.3	+	3	573	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	CD86_uc011bjo.2_Missense_Mutation_p.E67K|CD86_uc011bjp.2_Missense_Mutation_p.E37K|CD86_uc003eeu.3_Missense_Mutation_p.E143K|CD86_uc021xcz.1_Missense_Mutation_p.E143K	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	149					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TAATATAACAGAAAATGTGTA	0.333000														21			13		0	0	0.001855	0	0
TRIM44	54765	broad.mit.edu	37	11	35685316	35685316	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:35685316T>C	uc001mwi.2	+	0	964	c.657T>C	c.(655-657)ttT>ttC	p.F219F		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	219						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				ACGAAGCCTTTGAAGAATTAA	0.517000														79			42		0	0	0.002222	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412830	19412830	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:19412830C>T	uc010tcj.1	-	0		c.33280G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTTCTTTTTCCAGGTTGTCA	0.294000														76			28		0	0	0.008361	0	0
TMC3	342125	broad.mit.edu	37	15	81636370	81636370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:81636370G>A	uc021ssk.1	-	13	1535	c.1535C>T	c.(1534-1536)tCc>tTc	p.S512F	TMC3_uc021ssj.1_Missense_Mutation_p.S512F|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.S512F	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	512						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTCAATGATGGAGAGCTTCAG	0.532000														32			11		0	0	0.000978	0	0
ZNF22	7570	broad.mit.edu	37	10	45499485	45499485	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45499485C>T	uc001jbw.3	+	1	912	c.669C>T	c.(667-669)ctC>ctT	p.L223L	ZNF22_uc001jbx.1_Non-coding_Transcript|ZNF22_uc021ppo.1_Silent_p.L223L	NM_006963	NP_008894	P17026	ZNF22_HUMAN	Homo sapiens zinc finger protein 22 (KOX 15) (ZNF22), mRNA.	223				GRKSVAGLR -> EGSLWLVSVKYRAF (in Ref. 1; AAB24264).	odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				TGGCTGGTCTCCGTTAAGTAT	0.383000														69			31		0	0	0.003755	0	0
F2	2147	broad.mit.edu	37	11	46748309	46748309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:46748309C>T	uc001ndf.4	+	8	1095	c.1052C>T	c.(1051-1053)aCc>aTc	p.T351I		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	351					STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GAGGACAAAACCGAAAGAGAG	0.607000														61			32		0	0	0.002096	0	0
ILDR2	387597	broad.mit.edu	37	1	166905847	166905847	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:166905847G>A	uc001gdx.2	-	4	740	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	228	Cys-rich.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGCAGCAGCAGGAATCTGGGC	0.597000														53			5		0	0	0.001168	0	0
SCUBE3	222663	broad.mit.edu	37	6	35200690	35200690	+	Missense_Mutation	SNP	G	A	A	rs149626853		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:35200690G>A	uc003okf.1	+	4	539	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SCUBE3_uc003okg.1_Missense_Mutation_p.G177E|SCUBE3_uc003okh.1_Missense_Mutation_p.G49E	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	178	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						ACACCCAAGGGGGGTATTGCC	0.522000														185			54		0	0	0.003610	0	0
TECTB	6975	broad.mit.edu	37	10	114053575	114053575	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:114053575T>G	uc001kzr.1	+	4	563	c.563T>G	c.(562-564)gTg>gGg	p.V188G		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	188	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TTTGCAGGAGTGGAAGCCAAA	0.388000														53			22		0	0	0.001882	0	0
FLG2	388698	broad.mit.edu	37	1	152325619	152325619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152325619C>T	uc001ezw.4	-	2	4716	c.4643G>A	c.(4642-4644)gGa>gAa	p.G1548E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1548							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGGTATCTCCTGTCTGTCC	0.473000														252			85		0	0	0.003610	0	0
CRX	1406	broad.mit.edu	37	19	48343182	48343182	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48343182G>A	uc002phq.4	+	3	1062	c.858G>A	c.(856-858)ctG>ctA	p.L286L		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	286					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L286L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TGGACCCTCTGGACTACAAGG	0.542000														41			40		0	0	0.006999	0	0
CASP14	23581	broad.mit.edu	37	19	15166261	15166261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15166261G>A	uc010dzv.2	+	5	753	c.541G>A	c.(541-543)Gat>Aat	p.D181N		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	181					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CTACCGACATGATCAGAAAGG	0.527000														37			29		0	0	0.002836	0	0
HMCN1	83872	broad.mit.edu	37	1	185880845	185880845	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:185880845T>C	uc001grq.1	+	5	1062	c.833T>C	c.(832-834)tTa>tCa	p.L278S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	278					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGAGCTATTAAATATCCAT	0.388000														216			67		0	0	0.003610	0	0
ZNF71	58491	broad.mit.edu	37	19	57133360	57133360	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:57133360C>T	uc002qnm.4	+	2	943	c.705C>T	c.(703-705)atC>atT	p.I235I	ZNF71_uc021vcg.1_Silent_p.I235I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	235						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ACGAGCGGATCCACACGGGGG	0.652000														15			11		0	0	0.000978	0	0
CACNA1D	776	broad.mit.edu	37	3	53778782	53778782	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:53778782C>T	uc003dgv.4	+	22	3097	c.2934C>T	c.(2932-2934)tcC>tcT	p.S978S	CACNA1D_uc003dgu.4_Silent_p.S998S|CACNA1D_uc003dgy.4_Silent_p.S978S|CACNA1D_uc003dgw.4_Silent_p.S645S|CACNA1D_uc003dgx.1_Silent_p.S126S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	978					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGCCATCTCCGTTGTGAAGA	0.517000														56			32		0	0	0.004878	0	0
NYAP1	222950	broad.mit.edu	37	7	100087120	100087120	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100087120G>C	uc003uvd.1	+	3	1935	c.1776G>C	c.(1774-1776)gaG>gaC	p.E592D	NYAP1_uc003uve.1_Missense_Mutation_p.E374D	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	592																	AGCTGCAGGAGCAAGGGACCG	0.642000														54			26		0	0	0.005443	0	0
FRAS1	80144	broad.mit.edu	37	4	79396720	79396720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:79396720C>T	uc003hlb.2	+	53	8251	c.7811C>T	c.(7810-7812)tCc>tTc	p.S2604F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2599	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGGGTCAGCTCCCAACCTGGG	0.607000														90			44		0	0	0.003610	0	0
ATP11C	286410	broad.mit.edu	37	X	138869362	138869362	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:138869362C>G	uc004faz.3	-	14	1670	c.1571G>C	c.(1570-1572)aGa>aCa	p.R524T	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R524T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	524					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTACTCTCATATATCC	0.313000														16			15		0	0	0.004990	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457331	110457331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110457331G>A	uc003yne.3	+	37	5337	c.5233G>A	c.(5233-5235)Gaa>Aaa	p.E1745K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1745					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTCATACTTAGAAAGCATCAC	0.448000										HNSCC(38;0.096)				84			59		0	0	0.003610	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757739	99757739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99757739G>A	uc003utt.3	-	2	2290	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	C7orf43_uc010lgp.3_5'Flank|C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R363C|GAL3ST4_uc003utu.3_Missense_Mutation_p.R425C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	425					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.R425H(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGAAGGGGCGGAACCGGCGA	0.577000														76			26		0	0	0.004656	0	0
ARPP21	10777	broad.mit.edu	37	3	35770971	35770971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:35770971C>T	uc011axy.2	+	12	1512	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S	ARPP21_uc003cga.3_Missense_Mutation_p.P414S|ARPP21_uc003cgb.3_Missense_Mutation_p.P468S|ARPP21_uc003cgf.3_Missense_Mutation_p.P269S|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	468						cytoplasm	nucleic acid binding	p.P433P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537000														63			20		0	0	0.002299	0	0
XDH	7498	broad.mit.edu	37	2	31591449	31591449	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31591449C>T	uc002rnv.1	-	18	2137	c.2058G>A	c.(2056-2058)gtG>gtA	p.V686V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	686					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGTGATTTTCACCCCTTGGG	0.502000														48			30		0	0	0.002836	0	0
USH2A	7399	broad.mit.edu	37	1	216420241	216420241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216420241C>T	uc001hku.1	-	12	2882	c.2495G>A	c.(2494-2496)gGa>gAa	p.G832E	USH2A_uc001hkv.3_Missense_Mutation_p.G832E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	832	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTAGAAGTTTCCCTCCAAACA	0.458000										HNSCC(13;0.011)				97			30		0	0	0.001786	0	0
C2orf65	130951	broad.mit.edu	37	2	74867172	74867172	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:74867172G>A	uc002smy.3	-	1	348	c.231C>T	c.(229-231)ctC>ctT	p.L77L	C2orf65_uc010ysa.2_Silent_p.L77L|C2orf65_uc002smz.2_Silent_p.L77L	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	77					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CCACAAAAGGGAGGATGCACT	0.403000														41			22		0	0	0.003954	0	0
TPR	7175	broad.mit.edu	37	1	186308903	186308903	+	Splice_Site	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:186308903T>G	uc001grv.3	-	30	4318	c.4021_splice	c.e30-1	p.H1341_splice	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1341					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTTACTAGATGCTAGAATAA	0.303000			T	NTRK1	papillary thyroid									43			19		0	0	0.002780	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166456	61166456	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61166456A>G	uc002liz.4	+	5	813	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	224					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTTCAAAATAAGCATCTCAGC	0.468000														57			47		0	0	0.003610	0	0
CPD	1362	broad.mit.edu	37	17	28750031	28750031	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:28750031C>T	uc002hfb.2	+	4	1704	c.1647C>T	c.(1645-1647)gtC>gtT	p.V549V	CPD_uc010wbo.2_Silent_p.V302V|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	549	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ATCCGGGTGTCCATGAACCAG	0.398000														24			10		0	0	0.006214	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204218070	204218070	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204218070G>A	uc001hau.3	-	11	2020	c.1703C>T	c.(1702-1704)aCc>aTc	p.T568I		NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	568										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CTCCTGGTGGGTCCCCATCAA	0.557000														37			10		0	0	0.001368	0	0
HTR5A	3361	broad.mit.edu	37	7	154863051	154863051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:154863051G>A	uc003wlu.1	+	0	506	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	148						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCGCCACATGGAATACACGCT	0.622000														36			16		0	0	0.001523	0	0
ARNT	405	broad.mit.edu	37	1	150830871	150830871	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:150830871G>A	uc001evr.2	-	1	292	c.91C>T	c.(91-93)Caa>Taa	p.Q31*	ARNT_uc001evs.2_Nonsense_Mutation_p.Q31*|ARNT_uc009wmd.2_Nonsense_Mutation_p.Q31*|ARNT_uc009wmb.2_Nonsense_Mutation_p.Q22*|ARNT_uc009wmc.2_Nonsense_Mutation_p.Q31*|ARNT_uc009wme.2_Nonsense_Mutation_p.Q31*|ARNT_uc010pcl.2_Silent_p.F18F	NM_001668	NP_001659	P27540	ARNT_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator (ARNT), transcript variant 1, mRNA.	31					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCACCTTGAATTCCAGGT	0.423000			T	ETV6	AML									40			16		0	0	0.004007	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450657	32450657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:32450657G>A	uc021sic.1	+	6	837	c.730G>A	c.(730-732)Gag>Aag	p.E244K	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc010bae.2_Non-coding_Transcript|CHRNA7_uc001zft.3_Missense_Mutation_p.E215K|CHRNA7_uc010baf.3_Missense_Mutation_p.E34K|CHRNA7_uc010baj.1_Missense_Mutation_p.E75K|CHRNA7_uc010bak.3_Missense_Mutation_p.E130K	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	215					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GTGCTGCAAAGAGCCCTACCC	0.542000														69			40		0	0	0.003610	0	0
CDC14A	8556	broad.mit.edu	37	1	100905546	100905546	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:100905546A>G	uc001dtf.2	+	5	936	c.448A>G	c.(448-450)Atc>Gtc	p.I150V	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.I92V|CDC14A_uc001dte.4_Missense_Mutation_p.I150V|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Missense_Mutation_p.I150V|CDC14A_uc009wee.3_Missense_Mutation_p.I150V	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	150	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TTTGCAGGGAATCAGAAAGGT	0.333000														41			20		0	0	0.003330	0	0
PAPPA	5069	broad.mit.edu	37	9	118997643	118997643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:118997643C>T	uc004bjn.3	+	6	2840	c.2459C>T	c.(2458-2460)gCt>gTt	p.A820V	PAPPA_uc011lxp.1_Missense_Mutation_p.A515V|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	820					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.L819M(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACTGTTGGCTGTCAGTGGG	0.532000														20			8		0	0	0.004482	0	0
ABCA10	10349	broad.mit.edu	37	17	67149478	67149479	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:67149478_67149479GG>AA	uc010dfa.1	-	34	4982_4983	c.4103_4104CC>TT	c.(4102-4104)acc>aTT	p.T1368I	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.T360I|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1368	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTCCATCCCGGTGAACGGCTC	0.510000														88			49		0	0	0.004672	0	0
RGL2	5863	broad.mit.edu	37	6	33264531	33264531	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33264531G>A	uc003odv.3	-	3	823	c.263C>T	c.(262-264)tCc>tTc	p.S88F	RGL2_uc003odu.3_5'Flank|RGL2_uc010jur.3_5'UTR|RGL2_uc003odw.3_Missense_Mutation_p.S6F|RGL2_uc011drb.2_Missense_Mutation_p.S6F	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	88	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.S88C(2)		breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCGTCGGGAGGAACGTGGGGG	0.577000														61			20		0	0	0.008871	0	0
GRM3	2913	broad.mit.edu	37	7	86416133	86416133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:86416133C>T	uc003uid.3	+	2	2124	c.1025C>T	c.(1024-1026)cCc>cTc	p.P342L	GRM3_uc010lef.3_Missense_Mutation_p.P340L|GRM3_uc010leg.3_Missense_Mutation_p.P214L|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	342					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCCTCAACCCCTACAACAAC	0.607000														27			9		0	0	0.004482	0	0
SNHG15	285958	broad.mit.edu	37	7	45024965	45024965	+	RNA	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:45024965G>A	uc003tmk.4	-	0		c.1272C>T			SNHG15_uc003tml.4_Intron					Homo sapiens small nucleolar RNA host gene 15 (non-protein coding) (SNHG15), non-coding RNA.																		CTAGATCCAGGAGGGAGGAAG	0.428000														24			10		0	0	0.001368	0	0
LRIG1	26018	broad.mit.edu	37	3	66433745	66433745	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:66433745C>T	uc003dmx.3	-	14	2166	c.2152G>A	c.(2152-2154)Ggg>Agg	p.G718R	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.G338R|LRIG1_uc003dmw.3_Missense_Mutation_p.G384R|LRIG1_uc010hnz.3_Missense_Mutation_p.G434R|LRIG1_uc010hoa.3_Missense_Mutation_p.G695R	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	718	Ig-like C2-type 3.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGAGGGTTCCCCGTGGCTTTG	0.607000														49			23		0	0	0.003330	0	0
VNN1	8876	broad.mit.edu	37	6	133032871	133032871	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:133032871C>T	uc003qdo.3	-	1	338	c.318G>A	c.(316-318)tgG>tgA	p.W106*		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	106	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TACAGGGGATCCAGTTTACTT	0.378000														28			29		0	0	0.007291	0	0
ZNF99	7652	broad.mit.edu	37	19	22941484	22941484	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:22941484G>A	uc021urt.1	-	3	1382	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAAGTTTTGAGGACCACTTAA	0.373000														42			17		0	0	0.004007	0	0
SCN10A	6336	broad.mit.edu	37	3	38802185	38802185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38802185C>T	uc003ciq.3	-	6	937	c.937G>A	c.(937-939)Gga>Aga	p.G313R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	313					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGTCAGATCCATTGCCACAC	0.463000														75			29		0	0	0.002445	0	0
CACNA1F	778	broad.mit.edu	37	X	49068736	49068736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:49068736C>T	uc004dnb.3	-	33	4070	c.4008G>A	c.(4006-4008)atG>atA	p.M1336I	CACNA1F_uc010nip.3_Missense_Mutation_p.M1325I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1336					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGAAGAATATCATTGCGATGA	0.527000														10			22		0	0	0.004656	0	0
FAM5B	57795	broad.mit.edu	37	1	177250346	177250346	+	Missense_Mutation	SNP	G	A	A	rs149846085		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:177250346G>A	uc001glf.3	+	7	2346	c.2034G>A	c.(2032-2034)atG>atA	p.M678I	FAM5B_uc001glg.3_Missense_Mutation_p.M573I	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	678						extracellular region		p.M678I(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGGTTACATGAAAATTAACA	0.473000														104			36		0	0	0.004289	0	0
ALS2CL	259173	broad.mit.edu	37	3	46717853	46717854	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:46717853_46717854GG>AA	uc003cqa.2	-	18	2260_2261	c.2067_2068CC>TT	c.(2065-2070)ctccgg>ctTTgg	p.R690W	ALS2CL_uc003cpx.2_Missense_Mutation_p.R37W|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Missense_Mutation_p.R205W|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R690W	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	690					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ATCAGTGTCCGGAGCAGCTTTC	0.619000														55			18		0	0	0.004672	0	0
TNXB	7148	broad.mit.edu	37	6	32053871	32053871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:32053871C>T	uc003nzl.2	-	6	3006	c.2804G>A	c.(2803-2805)gGg>gAg	p.G935E		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1028					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCGGTAGTCCCCAAGAGGCC	0.627000														170			48		0	0	0.003610	0	0
RAB5A	5868	broad.mit.edu	37	3	19992420	19992420	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:19992420C>T	uc003cbn.3	+	1	565	c.30C>T	c.(28-30)aaC>aaT	p.N10N	RAB5A_uc010hey.3_Non-coding_Transcript|RAB5A_uc011awg.2_Silent_p.N10N	NM_004162	NP_004153	P20339	RAB5A_HUMAN	Homo sapiens RAB5A, member RAS oncogene family (RAB5A), mRNA.	10					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						CAAGACCCAACGGGCCAAATA	0.443000														63			11		0	0	0.001368	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433561	73433561	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:73433561C>T	uc003dpl.1	-	9	2252	c.2156G>A	c.(2155-2157)tGg>tAg	p.W719*	PDZRN3_uc011bgh.1_Nonsense_Mutation_p.W376*|PDZRN3_uc010hoe.1_Nonsense_Mutation_p.W417*|PDZRN3_uc021xaq.1_Nonsense_Mutation_p.W12*|PDZRN3_uc011bgf.1_Nonsense_Mutation_p.W436*|PDZRN3_uc011bgg.1_Nonsense_Mutation_p.W439*	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	719							ubiquitin-protein ligase activity|zinc ion binding	p.S718T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTGCAGCATCCAGGACTCGCG	0.597000														31			14		0	0	0.003163	0	0
POTEH	23784	broad.mit.edu	37	22	16287624	16287624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:16287624C>T	uc010gqp.2	-	0	314	c.262G>A	c.(262-264)Gat>Aat	p.D88N	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	88										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ATAGCAGAATCGTCGTGGTCT	0.607000														150			65		0	0	0.003610	0	0
ALK	238	broad.mit.edu	37	2	29430064	29430064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:29430064C>T	uc002rmy.3	-	25	4863	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	ALK_uc010ymo.2_Missense_Mutation_p.G236E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1304	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	AGTGAATATTCCTTCCATGAA	0.512000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					58			24		0	0	0.005443	0	0
TRMT1L	81627	broad.mit.edu	37	1	185125639	185125639	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:185125639A>T	uc001grf.4	-	0	478	c.206T>A	c.(205-207)cTa>cAa	p.L69Q	SWT1_uc001grg.4_5'Flank|SWT1_uc001grh.4_5'Flank|TRMT1L_uc010pon.2_Intron	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	69						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	p.S68A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ggcagaggctagggacgggga	0.667000														35			13		0	0	0.001368	0	0
TOM1	10043	broad.mit.edu	37	22	35719769	35719769	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:35719769C>T	uc003ann.3	+	5	635	c.510C>T	c.(508-510)ttC>ttT	p.F170F	TOM1_uc011ami.2_Silent_p.F137F|TOM1_uc003anp.3_Silent_p.F170F|TOM1_uc011aml.2_Silent_p.F125F|TOM1_uc011amk.2_Silent_p.F132F|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Silent_p.F13F	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	170					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AGACCGTGTTCAACTCAGAGA	0.592000														53			31		0	0	0.003755	0	0
CD14	929	broad.mit.edu	37	5	140011761	140011761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140011761G>A	uc003lgi.2	-	1	1187	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	CD14_uc003lgj.2_Missense_Mutation_p.P270S|CD14_uc021yej.1_Missense_Mutation_p.P270S|CD14_uc021yek.1_Missense_Mutation_p.P270S|CD14_uc021yel.1_Missense_Mutation_p.P139S	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	270					Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATCTCGGAGCGCTAGGG	0.647000														25			37		0	0	0.003755	0	0
FLNC	2318	broad.mit.edu	37	7	128490877	128490877	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:128490877G>A	uc003vnz.4	+	32	5628	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	FLNC_uc003voa.4_Missense_Mutation_p.G1774R	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1807					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GATGCCCTCGGGGAAGACGGC	0.612000														38			23		0	0	0.001882	0	0
CDH8	1006	broad.mit.edu	37	16	61891040	61891040	+	Missense_Mutation	SNP	G	A	A	rs150900671		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:61891040G>A	uc002eog.2	-	3	1605	c.650C>T	c.(649-651)tCc>tTc	p.S217F	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	217	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S217Y(2)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGGCTCAATGGAAAAATAAGG	0.398000														41			25		0	0	0.005443	0	0
GUCA1C	9626	broad.mit.edu	37	3	108627031	108627031	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:108627031G>A	uc003dxj.2	-	3	536	c.468C>T	c.(466-468)atC>atT	p.I156I	GUCA1C_uc003dxk.2_Nonsense_Mutation_p.Q170*	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	156	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CCATGCCATTGATAAATTCTT	0.393000														32			16		0	0	0.006122	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877893	39877893	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:39877893C>T	uc009vvt.1	+	0	2718	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	516										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGGTCACCTTCAGTTTTGCTT	0.418000														155			84		0	0	0.003610	0	0
MIR31HG	554202	broad.mit.edu	37	9	21455666	21455666	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:21455666C>T	uc003zpe.2	-	3		c.749G>A								Homo sapiens MIR31 host gene (non-protein coding) (MIR31HG), non-coding RNA.																		CTTCAGATTCCCCCAGGAGAA	0.502000														5			5		0	0	0.001168	0	0
PYROXD2	84795	broad.mit.edu	37	10	100159935	100159935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:100159935G>A	uc001kpc.3	-	4	481	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PYROXD2_uc001kpb.3_Non-coding_Transcript|PYROXD2_uc010qpe.2_Missense_Mutation_p.P132L	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	132							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						AAGGCACCTGGGCACCTTGCT	0.557000														61			15		0	0	0.002450	0	0
CFTR	1080	broad.mit.edu	37	7	117149167	117149167	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:117149167A>T	uc003vjd.3	+	2	376	c.244A>T	c.(244-246)Atg>Ttg	p.M82L	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	82	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGGAGATTTATGTTCTATGG	0.318000									Cystic Fibrosis					100			50		0	0	0.003610	0	0
ASTN1	460	broad.mit.edu	37	1	176833426	176833426	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:176833426C>T	uc001glc.3	-	22	4091	c.3879G>A	c.(3877-3879)gaG>gaA	p.E1293E	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1301					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGCTAGATCTCTTTGCTGT	0.517000														176			49		0	0	0.003610	0	0
UNC5D	137970	broad.mit.edu	37	8	35608272	35608272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:35608272C>T	uc003xjr.2	+	12	2436	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	UNC5D_uc003xjs.2_Missense_Mutation_p.S698F|UNC5D_uc003xju.2_Missense_Mutation_p.S279F	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	703	Interaction with DCC (By similarity).				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCTGTAACTCCCTGGATTAC	0.458000														117			44		0	0	0.003610	0	0
VWA2	340706	broad.mit.edu	37	10	116046165	116046165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:116046165G>A	uc001lbl.1	+	10	1786	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	VWA2_uc001lbk.1_Missense_Mutation_p.E489K|VWA2_uc009xyf.1_Missense_Mutation_p.E185K	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	489	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGAGCTGGAGGAGATCACAGG	0.632000														64			31		0	0	0.002096	0	0
NUP210L	91181	broad.mit.edu	37	1	154125286	154125286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:154125286G>A	uc001fdw.3	-	1	338	c.266C>T	c.(265-267)tCc>tTc	p.S89F	NUP210L_uc010peh.2_Missense_Mutation_p.S89F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	89						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTTTTTGGGAACACAAGGT	0.413000														63			12		0	0	0.000978	0	0
RNF25	64320	broad.mit.edu	37	2	219528914	219528914	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:219528914G>A	uc002vit.3	-	9	1234	c.1146C>T	c.(1144-1146)ccC>ccT	p.P382P	RNF25_uc010fvw.3_Silent_p.P270P	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	382					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTAGGTCCATGGGCTCCTTGA	0.657000														124			71		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179497472	179497472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179497472C>T	uc021vsy.1	-	183	35782	c.35557G>A	c.(35557-35559)Gag>Aag	p.E11853K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5548K|TTN_uc021vta.1_Missense_Mutation_p.E5481K|TTN_uc021vtb.1_Missense_Mutation_p.E5356K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12780	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTTTCTCGAAGACTTTA	0.428000														110			48		0	0	0.003214	0	0
OR2T34	127068	broad.mit.edu	37	1	248737306	248737306	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248737306G>A	uc001iep.1	-	0	753	c.753C>T	c.(751-753)atC>atT	p.I251I		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGCACTATGATCATGTGGG	0.552000														83			29		0	0	0.002836	0	0
CD19	930	broad.mit.edu	37	16	28946799	28946799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:28946799G>A	uc010byo.2	+	4	932	c.870G>A	c.(868-870)tgG>tgA	p.W290*	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Nonsense_Mutation_p.W290*	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	290					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CTGGTGGCTGGAAGGTCTCAG	0.542000														50			19		0	0	0.004656	0	0
HYDIN	54768	broad.mit.edu	37	16	70986461	70986461	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70986461C>T	uc002ezr.3	-	40	6542	c.6391G>A	c.(6391-6393)Gag>Aag	p.E2131K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2132								p.E2083K(2)|p.E2131K(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGAGTCATCTCGGAGGCTAAC	0.537000														30			14		0	0	0.006122	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147914405	147914405	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147914405G>A	uc003weu.2	+	18	3552	c.3036G>A	c.(3034-3036)ggG>ggA	p.G1012G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1012					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTGAAGAAGGGATGTGGCTAC	0.488000										HNSCC(39;0.1)				75			45		0	0	0.002522	0	0
CD163L1	283316	broad.mit.edu	37	12	7586231	7586232	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7586231_7586232CC>TT	uc010sge.2	-	2	209_210	c.183_184GG>AA	c.(181-186)gtggag>gtAAag	p.E62K	CD163L1_uc001qsy.3_Missense_Mutation_p.E62K	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	62	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.E62D(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AATTTCACCTCCACTGTCCCAG	0.480000														79			36		0	0	0.004672	0	0
LDB2	9079	broad.mit.edu	37	4	16513650	16513650	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:16513650C>T	uc003goz.3	-	5	1009	c.693G>A	c.(691-693)ctG>ctA	p.L231L	LDB2_uc003gpa.3_Silent_p.L231L|LDB2_uc011bxh.2_Silent_p.L203L|LDB2_uc003gpb.3_Silent_p.L231L|LDB2_uc010iee.3_Silent_p.L231L|LDB2_uc011bxi.2_Silent_p.L107L	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	231							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AGCAGGTCTTCAGGCAGTCTC	0.473000														48			27		0	0	0.004656	0	0
TET2	54790	broad.mit.edu	37	4	106158304	106158304	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:106158304A>G	uc011cez.2	+	2	3673	c.3268A>G	c.(3268-3270)Acc>Gcc	p.T1090A	TET2_uc003hxk.3_Missense_Mutation_p.T1069A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.T1069A|TET2_uc010ilp.2_Missense_Mutation_p.T1069A|TET2_uc021xql.1_Missense_Mutation_p.T1069A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	1069					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.K1090fs*16(1)|p.T1069fs*13(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTAGACAAACCACTGCTGC	0.433000			"""Mis N, F"""		MDS									47			28		0	0	0.008361	0	0
SORCS3	22986	broad.mit.edu	37	10	107006990	107006990	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:107006990C>T	uc001kyi.1	+	21	3233	c.3006C>T	c.(3004-3006)tcC>tcT	p.S1002S	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1002						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTTCCAGTCCCAGCTTTTAT	0.463000														24			16		0	0	0.003163	0	0
UBQLN4	56893	broad.mit.edu	37	1	156013888	156013888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:156013888G>A	uc001fna.3	-	5	1051	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	UBQLN4_uc010pgx.2_Missense_Mutation_p.P323S	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	343						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CCGGACCCGGGGGCCTGGGAG	0.697000														42			6		0	0	0.001984	0	0
TMEM131	23505	broad.mit.edu	37	2	98408897	98408897	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:98408897G>A	uc002syh.4	-	30	4325	c.4096C>T	c.(4096-4098)Cta>Tta	p.L1366L		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1366						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACACTTCTAGGGCTGGGGAG	0.542000														18			13		0	0	0.004990	0	0
MUC16	94025	broad.mit.edu	37	19	9083313	9083313	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9083313C>T	uc002mkp.3	-	0	8706	c.8502G>A	c.(8500-8502)acG>acA	p.T2834T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2834	Ser-rich.|Thr-rich.		T -> M (in dbSNP:rs10407623).		cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGTCTGTTCGTGGTGATTT	0.507000														36			9		0	0	0.008291	0	0
GFRAL	389400	broad.mit.edu	37	6	55216070	55216070	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:55216070C>T	uc003pcm.1	+	4	476	c.390C>T	c.(388-390)tcC>tcT	p.S130S		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	130						integral to membrane	receptor activity	p.S130Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATGTGGTCCTGTTTGGAAG	0.443000														128			70		0	0	0.003610	0	0
KCNQ3	3786	broad.mit.edu	37	8	133175741	133175741	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:133175741C>T	uc003ytj.3	-	9	1461	c.1236_splice	c.e9-1	p.R412_splice	KCNQ3_uc003yti.3_Splice_Site_p.R292_splice|KCNQ3_uc010mdt.3_Splice_Site_p.R412_splice	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	412					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCTGTTCTTTCCTAGAAAGAG	0.423000														37			49		0	0	0.003610	0	0
SQRDL	58472	broad.mit.edu	37	15	45962144	45962144	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:45962144A>G	uc001zvu.3	+	4	617	c.424A>G	c.(424-426)Att>Gtt	p.I142V	SQRDL_uc001zvv.3_Missense_Mutation_p.I142V	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	142							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CCGATATCTTATTATTGCTCT	0.438000														123			60		0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	75019658	75019658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75019658C>T	uc001xqa.3	-	4	1516	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	377					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGGTGGTGTCGCCCCTCTCA	0.587000														13			10		0	0	0.008291	0	0
POMGNT1	55624	broad.mit.edu	37	1	46655019	46655019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:46655019G>A	uc001cpg.3	-	21	2531	c.1880C>T	c.(1879-1881)gCc>gTc	p.A627V	POMGNT1_uc010olx.2_Missense_Mutation_p.P614S|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Missense_Mutation_p.P493S|POMGNT1_uc001cpe.3_Missense_Mutation_p.P636S|POMGNT1_uc001cpf.3_Missense_Mutation_p.P303S	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	623					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACTGAGGGTGGCTTCTTCACT	0.537000														75			37		0	0	0.002522	0	0
LRP2	4036	broad.mit.edu	37	2	170150729	170150729	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:170150729T>C	uc002ues.3	-	5	794	c.581A>G	c.(580-582)gAg>gGg	p.E194G	LRP2_uc010zdf.1_Missense_Mutation_p.E194G	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	194	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.E194K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGGATACACTCTCCATTGCC	0.438000														80			32		0	0	0.004289	0	0
BATF2	116071	broad.mit.edu	37	11	64757231	64757231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64757231G>A	uc021qlb.1	-	0	756	c.215C>T	c.(214-216)cCc>cTc	p.P72L	BATF2_uc001oce.1_5'UTR|BATF2_uc001ocf.1_Silent_p.S65S	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 2 (BATF2), mRNA.	223						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						CGGCCTGCAGGGACTGGATCT	0.647000														39			22		0	0	0.002299	0	0
KIAA0319	9856	broad.mit.edu	37	6	24596459	24596459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24596459C>T	uc011djo.2	-	2	943	c.443G>A	c.(442-444)tGg>tAg	p.W148*	KIAA0319_uc011djp.2_Nonsense_Mutation_p.W103*|KIAA0319_uc003neh.1_Nonsense_Mutation_p.W148*|KIAA0319_uc011djq.1_Nonsense_Mutation_p.W139*|KIAA0319_uc011djr.1_Nonsense_Mutation_p.W148*	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	148					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTCTAGGCCCCAATCTTTGCC	0.572000														77			19		0	0	0.002780	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849069	26849069	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26849069G>A	uc001iss.3	+	11	1512	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	397	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGTATATCAAGTATCTCTGCT	0.458000														106			63		0	0	0.003610	0	0
MMP28	79148	broad.mit.edu	37	17	34095300	34095300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:34095300C>T	uc002hjy.1	-	6	1205	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	317					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCCTGCGTTTCAGGGCGCCTT	0.562000														34			14		0	0	0.001855	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913356	77913356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:77913356G>A	uc022bzi.1	-	0	562	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	ZCCHC5_uc004edc.1_Missense_Mutation_p.P188S	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	188	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGCTCCTGGGGAGGTGGAAGC	0.542000														8			14		0	0	0.002450	0	0
MCHR2	84539	broad.mit.edu	37	6	100390835	100390835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:100390835C>T	uc003pqh.1	-	3	892	c.577G>A	c.(577-579)Gat>Aat	p.D193N	MCHR2_uc003pqi.1_Missense_Mutation_p.D193N	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGAGTACATCGTCAGGGGAT	0.408000														22			28		0	0	0.001786	0	0
OR10Z1	128368	broad.mit.edu	37	1	158577042	158577042	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158577042C>T	uc010pio.2	+	0	814	c.814C>T	c.(814-816)Cag>Tag	p.Q272*		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGAGAGAGATCAGCTTATTGC	0.468000														261			99		0	0	0.003610	0	0
ZNF90	7643	broad.mit.edu	37	19	20236031	20236031	+	RNA	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20236031A>T	uc021url.1	+	2		c.455A>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CTTCTTGGCAAGGAGCGATTT	0.577000														24			7		0	0	0.003080	0	0
MPP7	143098	broad.mit.edu	37	10	28420537	28420537	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:28420537C>T	uc001iua.1	-	7	803	c.399G>A	c.(397-399)gaG>gaA	p.E133E	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.E133E|MPP7_uc009xla.2_Silent_p.E133E|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	133					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGAGTCTTCCTCATCGTCAA	0.418000														82			32		0	0	0.003271	0	0
RNF17	56163	broad.mit.edu	37	13	25376564	25376564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:25376564G>A	uc001upr.3	+	13	1845	c.1804G>A	c.(1804-1806)Gta>Ata	p.V602I	RNF17_uc010tdd.1_Missense_Mutation_p.V461I|RNF17_uc010tde.2_Missense_Mutation_p.V602I|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.V541I	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	602					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTGAAAATGGTAAATAACAA	0.333000														70			46		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196673509	196673509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:196673509G>A	uc002utj.4	-	52	10081	c.9980C>T	c.(9979-9981)tCc>tTc	p.S3327F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3327					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCATCCCAGGATTTCTGAGG	0.393000														53			20		0	0	0.007413	0	0
TALDO1	6888	broad.mit.edu	37	11	764378	764378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:764378C>T	uc001lqz.3	+	6	976	c.926C>T	c.(925-927)tCt>tTt	p.S309F	TALDO1_uc001lra.3_Silent_p.L308L	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	309					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAGAAGCTCTCTGACGGGATC	0.542000														31			8		0	0	0.003080	0	0
ZNF259	8882	broad.mit.edu	37	11	116655590	116655590	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:116655590C>T	uc001ppp.3	-	7	834	c.801G>A	c.(799-801)caG>caA	p.Q267Q		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	267					cell proliferation|signal transduction	cytoplasm|nucleolus		p.Q267*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATGTTGGTCTGAGCGGGGG	0.507000														136			124		0	0	0.003610	0	0
PDCD11	22984	broad.mit.edu	37	10	105162875	105162875	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:105162875T>C	uc001kwy.1	+	4	322	c.235_splice	c.e4-1	p.S79_splice		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	79					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCTCTTCTAGTCCCTGTGTGA	0.448000														150			72		0	0	0.003610	0	0
OR2G2	81470	broad.mit.edu	37	1	247751954	247751954	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247751954G>T	uc010pyy.2	+	0	293	c.293G>T	c.(292-294)gGt>gTt	p.G98V		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATCGCCTATGGTGGCTGTTTG	0.542000														74			34		5.8336e-16	1.05594e-15	0.003271	1	0
DNAH9	1770	broad.mit.edu	37	17	11687036	11687036	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:11687036G>A	uc002gne.3	+	39	7860	c.7792G>A	c.(7792-7794)Ggc>Agc	p.G2598S	DNAH9_uc010coo.3_Missense_Mutation_p.G1892S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2598	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A2597E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCCACGGCAGGCAGCTTCAC	0.498000														10			18		0	0	0.001523	0	0
ASXL3	80816	broad.mit.edu	37	18	31324212	31324212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:31324212G>A	uc010dmg.1	+	11	4455	c.4400G>A	c.(4399-4401)cGa>cAa	p.R1467Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R1174Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GCCATAAACCGATCAATTCCG	0.512000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			48		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41465792	41465792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:41465792C>T	uc002yyq.1	-	20	4158	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1236	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCTCAAACTCGCTGATCACC	0.453000														35			16		0	0	0.004990	0	0
OR5K1	26339	broad.mit.edu	37	3	98189268	98189268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:98189268C>T	uc003dsm.3	+	0	848	c.848C>T	c.(847-849)cCc>cTc	p.P283L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATAGTAGTTCCCTTACTAAAT	0.308000														56			19		0	0	0.007413	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81061875	81061875	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:81061875C>T	uc001kaf.2	+	17	2603	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	ZMIZ1_uc001kag.2_Silent_p.F553F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	677					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCCACCTCTTCGTGCTGCAGC	0.632000														107			61		0	0	0.003610	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:23966723G>A	uc002wts.3	-	2	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000														72			29		0	0	0.002096	0	0
LINS	55180	broad.mit.edu	37	15	101109521	101109521	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:101109521G>A	uc002bwg.3	-	6	2419	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	LINS_uc002bwd.3_Silent_p.F319F	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	732										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GATTATATGGGAAAAGATTTT	0.318000														67			31		0	0	0.002096	0	0
DPEP3	64180	broad.mit.edu	37	16	68014033	68014033	+	Missense_Mutation	SNP	G	C	C	rs150317704		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:68014033G>C	uc002evc.4	-	0	420	c.326C>G	c.(325-327)gCg>gGg	p.A109G	DPEP3_uc010cex.3_Missense_Mutation_p.A109G	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	84					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.A109A(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CAGGGCCTGCGCGCGACCCCG	0.667000														52			23		0	0	0.003330	0	0
PTPRC	5788	broad.mit.edu	37	1	198719641	198719641	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:198719641G>A	uc001gur.1	+	28	3267	c.3087G>A	c.(3085-3087)gtG>gtA	p.V1029V	PTPRC_uc001gut.1_Silent_p.V868V	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1029	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTGAAGTGATGATTGCTG	0.398000														127			32		0	0	0.003271	0	0
COL1A2	1278	broad.mit.edu	37	7	94052408	94052408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:94052408C>T	uc003ung.1	+	39	3014	c.2543C>T	c.(2542-2544)cCc>cTc	p.P848L	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	848			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G847S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GAGAAGGGTCCCTCTGGAGAG	0.502000										HNSCC(75;0.22)				76			31		0	0	0.003271	0	0
LAMA5	3911	broad.mit.edu	37	20	60893546	60893546	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:60893546G>A	uc002ycq.3	-	52	7270	c.7203C>T	c.(7201-7203)ctC>ctT	p.L2401L	LAMA5_uc021wfw.1_Silent_p.L2401L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2401	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCGGCTGTTGAGCTCCTGGG	0.672000														57			29		0	0	0.001786	0	0
NGDN	25983	broad.mit.edu	37	14	23945579	23945579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:23945579C>T	uc001wjy.3	+	7	703	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S	NGDN_uc001wjz.3_Missense_Mutation_p.P226S	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	226					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGCTCGGCATCCCCATGTTAC	0.502000														25			13		0	0	0.004007	0	0
MST1P2	11209	broad.mit.edu	37	1	16974549	16974549	+	RNA	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16974549C>G	uc009vow.2	+	4		c.1359C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Non-coding_Transcript|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGGCTGAGTGCAGCGCCTGCT	0.692000														59			5		0	0	0.001168	0	0
TNR	7143	broad.mit.edu	37	1	175372436	175372436	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175372436C>T	uc001gkp.1	-	1	897	c.816G>A	c.(814-816)ggG>ggA	p.G272G	TNR_uc009wwu.1_Silent_p.G272G|TNR_uc010pmz.1_Silent_p.G272G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	272	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATCTCCCCTTCCCCGAACAGT	0.642000														45			12		0	0	0.000978	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69421838	69421838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:69421838C>T	uc004dxx.1	+	4	668	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	191					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGCTGAAGCTCTCTTGTGCCG	0.542000														12			16		0	0	0.004007	0	0
ESRP1	54845	broad.mit.edu	37	8	95690597	95690597	+	Silent	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:95690597C>A	uc003ygq.4	+	12	2001	c.1818C>A	c.(1816-1818)ccC>ccA	p.P606P	ESRP1_uc003ygr.4_Silent_p.P602P|ESRP1_uc003ygs.4_Silent_p.P602P|ESRP1_uc003ygt.4_Silent_p.P606P|ESRP1_uc003ygu.4_Silent_p.P602P|ESRP1_uc003ygv.3_Silent_p.P446P|ESRP1_uc003ygw.3_Silent_p.P446P	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	606					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CGTACTATCCCAGGTAAGGCT	0.498000														271			9		0.00448238	0.00803779	0.004482	1	0
IL7R	3575	broad.mit.edu	37	5	35867483	35867483	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35867483C>T	uc003jjs.3	+	2	386	c.297C>T	c.(295-297)ttC>ttT	p.F99F	IL7R_uc011coo.2_Silent_p.F99F|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	99					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAAGAAATTCTTACTGATTG	0.368000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							62			21		0	0	0.002780	0	0
C11orf24	53838	broad.mit.edu	37	11	68030376	68030376	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:68030376G>A	uc001onr.4	-	3	529	c.87C>T	c.(85-87)gtC>gtT	p.V29V		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	29						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TTTTGTTAGGGACAAAGTTGC	0.458000														33			14		0	0	0.002450	0	0
FAM129A	116496	broad.mit.edu	37	1	184764696	184764696	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:184764696C>T	uc001gra.3	-	13	2396	c.2202G>A	c.(2200-2202)acG>acA	p.T734T	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	734	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TCTCCCCATTCGTATCTTCTT	0.522000														120			35		0	0	0.006230	0	0
MYO3A	53904	broad.mit.edu	37	10	26463486	26463486	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:26463486G>A	uc001isn.2	+	30	4653	c.4293_splice	c.e30+1	p.Q1431_splice	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1431					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTTCAAAACAGGTATGTGAAT	0.294000														38			16		0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135428775	135428775	+	Silent	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:135428775C>A	uc004ezu.1	+	5	3201	c.2910C>A	c.(2908-2910)acC>acA	p.T970T	GPR112_uc010nsb.1_Silent_p.T765T|GPR112_uc010nsc.1_Silent_p.T737T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGCTTCTACCACAAGGATAT	0.488000														100			5		0.00116845	0.00210086	0.001168	1	0
NOTCH3	4854	broad.mit.edu	37	19	15300169	15300169	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15300169A>G	uc002nan.3	-	6	1183	c.1107T>C	c.(1105-1107)aaT>aaC	p.N369N	NOTCH3_uc002nao.1_Silent_p.N369N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	369	EGF-like 9.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTTCACCGGATTTGTGTCAC	0.597000														79			40		0	0	0.006230	0	0
FLG2	388698	broad.mit.edu	37	1	152329660	152329660	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152329660G>A	uc001ezw.4	-	2	675	c.602C>T	c.(601-603)tCt>tTt	p.S201F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	201	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTTCTACAGAGCTGGAACC	0.468000														213			66		0	0	0.003610	0	0
TTC17	55761	broad.mit.edu	37	11	43513659	43513659	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:43513659C>T	uc001mxi.3	+	22	3310	c.3240C>T	c.(3238-3240)atC>atT	p.I1080I	TTC17_uc010rfj.2_Silent_p.I1080I|TTC17_uc001mxl.3_Silent_p.I136I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1080							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGTAGAGATCGCACCACACT	0.522000														98			57		0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324626	61324626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61324626G>A	uc002lji.3	-	5	634	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_uc002ljg.3_Missense_Mutation_p.P164S|SERPINB3_uc010dqa.3_Missense_Mutation_p.P164S	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTACCTTCAGGAATTAGGTTT	0.353000														93			33		0	0	0.006230	0	0
OPRM1	4988	broad.mit.edu	37	6	154411105	154411105	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:154411105G>A	uc011efe.2	+	3	1237	c.714G>A	c.(712-714)gtG>gtA	p.V238V	OPRM1_uc011efb.2_Silent_p.V193V|OPRM1_uc011efd.2_Silent_p.V45V|OPRM1_uc011efc.1_Silent_p.V64V|OPRM1_uc003qpn.2_Silent_p.V145V|OPRM1_uc003qpo.1_Silent_p.V145V|OPRM1_uc011eff.1_Silent_p.V145V|OPRM1_uc011efg.1_Silent_p.V145V|OPRM1_uc011efi.2_Silent_p.V145V|OPRM1_uc011efh.1_Silent_p.V145V|OPRM1_uc003qpq.1_Silent_p.V145V|OPRM1_uc003qpr.2_Silent_p.V145V|OPRM1_uc003qpt.1_Silent_p.V145V|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.V45V|OPRM1_uc003qpu.2_Silent_p.V45V	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	145					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAAGATAGTGATCTCCATAG	0.473000														61			45		0	0	0.003610	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421228	62421228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:62421228G>A	uc002ygv.2	-	1	1084	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GACGGCACCGGGGAGCTGGCC	0.627000														104			65		0	0	0.003610	0	0
GNAO1	2775	broad.mit.edu	37	16	56374887	56374887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:56374887C>T	uc002eit.4	+	6	1762	c.865C>T	c.(865-867)Cct>Tct	p.P289S	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	289					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATCTGCTTTCCTGAATATAC	0.532000														196			107		0	0	0.003610	0	0
CD48	962	broad.mit.edu	37	1	160654867	160654867	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:160654867C>T	uc001fwo.1	-	1	227	c.195G>A	c.(193-195)aaG>aaA	p.K65K	CD48_uc001fwn.3_Silent_p.K65K|CD48_uc001fwp.3_Silent_p.K65K	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	65	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATTCTACAATCTTCTGGTCGA	0.443000														80			22		0	0	0.002299	0	0
PRRC2A	7916	broad.mit.edu	37	6	31594848	31594848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31594848C>T	uc003nvb.4	+	10	1412	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.P388L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	388	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCGCCCACTCCTAAGACGGCC	0.652000														71			24		0	0	0.003330	0	0
ELF3	1999	broad.mit.edu	37	1	201980352	201980352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:201980352C>T	uc001gxg.4	+	0	3280	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	ELF3_uc001gxi.4_Missense_Mutation_p.P30S|ELF3_uc001gxh.4_Missense_Mutation_p.P30S	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	30					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P30S(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCTCTGTTCCCCCTGCTGC	0.572000														120			28		0	0	0.001786	0	0
KIF21A	55605	broad.mit.edu	37	12	39734154	39734154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:39734154G>A	uc001rly.3	-	15	2543	c.2123C>T	c.(2122-2124)tCt>tTt	p.S708F	KIF21A_uc001rlw.3_Missense_Mutation_p.S25F|KIF21A_uc001rlx.3_Missense_Mutation_p.S695F|KIF21A_uc001rlz.3_Missense_Mutation_p.S695F|KIF21A_uc010skl.2_Missense_Mutation_p.S695F	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	708					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTGAGTAAGATTCTACCGA	0.343000														10			5		0	0	0.001168	0	0
KCNT2	343450	broad.mit.edu	37	1	196397324	196397324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:196397324C>T	uc001gtd.1	-	9	955	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.E299K|KCNT2_uc001gtf.1_Missense_Mutation_p.E299K|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.E299K|KCNT2_uc009wyv.1_Missense_Mutation_p.E274K	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	299						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ACATGCTTTTCAGTTTGAGCT	0.388000														56			17		0	0	0.008871	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144524	12144524	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12144524C>T	uc001atq.3	+	1	289	c.67C>T	c.(67-69)Cga>Tga	p.R23*	TNFRSF8_uc010obc.2_Intron	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	23					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCAGGATCGACCCTTCGA	0.592000														77			23		0	0	0.001786	0	0
CMYA5	202333	broad.mit.edu	37	5	79029209	79029209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:79029209G>A	uc003kgc.3	+	1	4693	c.4621G>A	c.(4621-4623)Gaa>Aaa	p.E1541K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1541						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAGAAGAAAGAAACTGAACT	0.423000														71			29		0	0	0.005443	0	0
SNTG2	54221	broad.mit.edu	37	2	1094083	1094083	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1094083C>T	uc002qwq.3	+	3	441	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	104	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAAATATTCGAAGACCAAG	0.388000														46			30		0	0	0.002445	0	0
GNA15	2769	broad.mit.edu	37	19	3155944	3155944	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:3155944C>T	uc002lxf.2	+	4	996	c.738C>T	c.(736-738)aaC>aaT	p.N246N		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	246					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.N246N(2)		large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		AGGAGAACAACCAGGAGGTGC	0.587000														37			13		0	0	0.001368	0	0
ANPEP	290	broad.mit.edu	37	15	90346521	90346521	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:90346521G>A	uc002bop.4	-	9	1810	c.1518C>T	c.(1516-1518)acC>acT	p.T506T		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	506	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GGTAGGCAAAGGTGTGGAGGT	0.627000														75			28		0	0	0.007291	0	0
FEZF2	55079	broad.mit.edu	37	3	62357802	62357802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:62357802C>T	uc003dlh.2	-	0	949	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	FEZF2_uc003dli.2_Missense_Mutation_p.E248K	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	248					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GCCGAGTTTTCCTTCAGTACC	0.657000														9			6		0	0	0.001984	0	0
TNK2	10188	broad.mit.edu	37	3	195599249	195599249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:195599249G>A	uc003fvu.1	-	9	1892	c.1349C>T	c.(1348-1350)tCg>tTg	p.S450L	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Missense_Mutation_p.S482L|TNK2_uc003fvt.1_Missense_Mutation_p.S513L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.S280L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	450				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S450L(2)|p.S513L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GTCCTGGGCCGACAGGCCGGC	0.667000														74			21		0	0	0.001882	0	0
LAMA3	3909	broad.mit.edu	37	18	21338393	21338393	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21338393G>A	uc002kuq.3	+	6	1067	c.981G>A	c.(979-981)ggG>ggA	p.G327G	LAMA3_uc010dlv.2_Silent_p.G327G|LAMA3_uc002kur.3_Silent_p.G327G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	327	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACCTGTGGGGAGACGTGTG	0.572000														30			10		0	0	0.008291	0	0
STAG3	10734	broad.mit.edu	37	7	99808749	99808749	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99808749C>T	uc003utx.1	+	29	3509	c.3354C>T	c.(3352-3354)ccC>ccT	p.P1118P	STAG3_uc011kjk.1_Silent_p.P1060P|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Silent_p.P342P	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1118					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCAGGCAGCCCCTGTGGGGGT	0.582000														67			25		0	0	0.004656	0	0
OR11H6	122748	broad.mit.edu	37	14	20692321	20692321	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20692321C>T	uc010tlc.2	+	0	453	c.453C>T	c.(451-453)ccC>ccT	p.P151P		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TACACTACCCCTCCATCATGA	0.423000														74			33		0	0	0.003271	0	0
PSG9	5678	broad.mit.edu	37	19	43762487	43762487	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:43762487C>T	uc002owd.4	-	4	1209	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	PSG9_uc002owe.4_Silent_p.G277G|PSG9_uc010xwm.2_Silent_p.G277G|PSG9_uc002owf.4_Silent_p.G184G|PSG9_uc002owg.2_Silent_p.G277G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	370	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTGAAACTTCCCATTAATTG	0.443000														69			81		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89403579	89403579	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:89403579G>A	uc010upo.1	+	12	7229	c.6855G>A	c.(6853-6855)gaG>gaA	p.E2285E	ACAN_uc010upp.1_Intron|ACAN_uc002bna.2_Intron	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2285					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGTGCAGAGGAGCCCTGTG	0.607000														15			13		0	0	0.001855	0	0
SFT2D2	375035	broad.mit.edu	37	1	168211762	168211762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:168211762C>T	uc001gfi.4	+	7	530	c.467C>T	c.(466-468)gCc>gTc	p.A156V	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					AAGTGTTTTGCCGTGTGTCTT	0.458000														93			91		0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908289	131908289	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:131908289G>A	uc003vra.4	-	8	2323	c.2094C>T	c.(2092-2094)ccC>ccT	p.P698P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	698	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACCTACCTCGGGCAGCTTCA	0.557000														18			7		0	0	0.003080	0	0
PLCB2	5330	broad.mit.edu	37	15	40594551	40594551	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:40594551C>T	uc001zld.3	-	5	674	c.373_splice	c.e5-1	p.A125_splice	PLCB2_uc010bbo.3_Splice_Site_p.A125_splice|PLCB2_uc010ucm.2_Splice_Site_p.A125_splice|PLCB2_uc001zle.4_Splice_Site_p.A125_splice	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	125					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCCCAGGCCTGCAGGACCA	0.657000														15			7		0	0	0.003080	0	0
IRX6	79190	broad.mit.edu	37	16	55361271	55361271	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55361271G>A	uc002ehy.3	+	2	900	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	IRX6_uc002ehx.3_Missense_Mutation_p.A123T|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACAACCAGGAGCCTATTATCC	0.502000														44			26		0	0	0.002096	0	0
DPT	1805	broad.mit.edu	37	1	168670317	168670317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:168670317C>T	uc001gfp.3	-	2	507	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	159	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTAGGAAATCATGTCCATTT	0.418000														208			45		0	0	0.003610	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406772	148406772	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:148406772G>A	uc003lpu.3	-	10	2675	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.L485L|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.L388L|SH3TC2_uc010jgx.3_Silent_p.L834L|SH3TC2_uc003lpv.1_Silent_p.L388L|SH3TC2_uc011dbz.1_Silent_p.L726L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	841							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTCCCAGGAGGTTATAGA	0.557000														89			93		0	0	0.003610	0	0
ABCC8	6833	broad.mit.edu	37	11	17434970	17434970	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:17434970G>A	uc001mnc.3	-	19	2572	c.2446C>T	c.(2446-2448)Cat>Tat	p.H816Y		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	816	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCTCCATGGGGCAGGATG	0.577000														316			140		0	0	0.003610	0	0
BOLL	66037	broad.mit.edu	37	2	198640397	198640397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:198640397C>T	uc002uuu.1	-	4	741	c.362G>A	c.(361-363)gGg>gAg	p.G121E	BOLL_uc002uur.2_Missense_Mutation_p.G121E|BOLL_uc002uus.2_Missense_Mutation_p.G115E|BOLL_uc002uut.2_Missense_Mutation_p.G127E|BOLL_uc010zha.1_Intron	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	115					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	RNA binding|nucleotide binding|protein binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACGAGGGATCCCTACTTGTTG	0.244000														79			22		0	0	0.008361	0	0
ADTRP	84830	broad.mit.edu	37	6	11723584	11723584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:11723584C>T	uc011dip.2	-	5	998	c.710G>A	c.(709-711)tGg>tAg	p.W237*	ADTRP_uc003naa.3_Non-coding_Transcript|ADTRP_uc003nab.3_Nonsense_Mutation_p.W219*	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	219						integral to membrane											ACACTGACCCCATTTCCAGTG	0.493000														182			42		0	0	0.003610	0	0
RHBDF1	64285	broad.mit.edu	37	16	113728	113728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:113728G>A	uc002cfl.4	-	3	462	c.319C>T	c.(319-321)Cgt>Tgt	p.R107C	RHBDF1_uc010uty.2_Missense_Mutation_p.R130C|RHBDF1_uc010utz.2_Missense_Mutation_p.R107C|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	107					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.R107C(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTGCAGTGACGGATGCTCTTG	0.657000														36			22		0	0	0.002780	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33658435	33658435	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:33658435C>T	uc003jia.1	-	6	1207	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	ADAMTS12_uc010iuq.1_Silent_p.K348K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	348	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACAGATGTCCTTTCTGAAAG	0.463000										HNSCC(64;0.19)				116			46		0	0	0.003610	0	0
SLC15A2	6565	broad.mit.edu	37	3	121647961	121647961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121647961C>T	uc003eep.2	+	15	1627	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C	SLC15A2_uc011bjn.1_Missense_Mutation_p.R461C	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	492					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTGTCATTCGTGAAGATGG	0.398000														135			66		0	0	0.003610	0	0
STIL	6491	broad.mit.edu	37	1	47767312	47767312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47767312G>A	uc001crd.1	-	4	529	c.374C>T	c.(373-375)cCa>cTa	p.P125L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.P125L|STIL_uc010omo.1_Missense_Mutation_p.P125L|STIL_uc001crc.1_Missense_Mutation_p.P125L|STIL_uc001cre.1_Missense_Mutation_p.P125L|STIL_uc001crg.1_Missense_Mutation_p.P125L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	125					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				AACTTTGCATGGAATCAAAAA	0.408000														29			17		0	0	0.004007	0	0
RBM17	84991	broad.mit.edu	37	10	6157213	6157213	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6157213C>T	uc001ijb.3	+	10	1267	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	RBM17_uc010qav.2_Silent_p.A347A|RBM17_uc001ijc.3_Non-coding_Transcript	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	347	RRM.				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TTCCTGGTGCCCCTGATGATG	0.343000														19			13		0	0	0.002450	0	0
MEI1	150365	broad.mit.edu	37	22	42112052	42112052	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:42112052A>G	uc003baz.1	+	4	456	c.431A>G	c.(430-432)aAc>aGc	p.N144S	MEI1_uc003bay.3_Missense_Mutation_p.N144S|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	144							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TAGCTGTGTAACATGCCCTCC	0.512000														20			10		0	0	0.008291	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8668757	8668757	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8668757G>A	uc002mkj.1	-	4	721	c.447C>T	c.(445-447)atC>atT	p.I149I	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	149					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGTCTGCCACGATCAGGCCGT	0.552000														63			24		0	0	0.004656	0	0
ADAM7	8756	broad.mit.edu	37	8	24324458	24324458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24324458C>T	uc003xeb.3	+	5	649	c.536C>T	c.(535-537)aCt>aTt	p.T179I	ADAM7_uc003xea.1_Missense_Mutation_p.T179I	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	179					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACCAGAAAAACTGTTCCAGGG	0.348000														80			41		0	0	0.007835	0	0
CYTH2	9266	broad.mit.edu	37	19	48973726	48973726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48973726G>A	uc002pjj.4	+	1	436	c.136G>A	c.(136-138)Gag>Aag	p.E46K	BC042033_uc002pjg.3_5'Flank|CYTH2_uc010xzr.1_Missense_Mutation_p.E46K	NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	46					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGCCATGAGCGAGGTGGAGGG	0.672000														19			33		0	0	0.002096	0	0
LRFN5	145581	broad.mit.edu	37	14	42360604	42360604	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42360604G>A	uc001wvm.3	+	3	2735	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	513						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TACGGAACAGGATTATGTGCG	0.428000										HNSCC(30;0.082)				118			52		0	0	0.003610	0	0
C1orf173	127254	broad.mit.edu	37	1	75072535	75072535	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:75072535C>T	uc001dgg.3	-	9	1458	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.R207R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	413								p.S412Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTTTCTTTCCTAGATTTCG	0.413000														78			36		0	0	0.006230	0	0
DDX60L	91351	broad.mit.edu	37	4	169305791	169305791	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169305791C>G	uc021xuh.1	-	28	4198	c.4088G>C	c.(4087-4089)gGa>gCa	p.G1363A	DDX60L_uc003irq.4_Missense_Mutation_p.G1363A	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1363							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGGGTCATCTCCCTTGGAAGC	0.532000														25			5		0	0	0.001984	0	0
ANO9	338440	broad.mit.edu	37	11	428574	428574	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:428574G>A	uc001lpi.2	-	12	1171	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F	ANO9_uc001lph.2_Silent_p.F55F|ANO9_uc010qvv.1_Silent_p.F218F	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	362						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCGAGCTGCTGAAGAGCGCGG	0.667000														41			20		0	0	0.002299	0	0
NR1D2	9975	broad.mit.edu	37	3	23996175	23996176	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:23996175_23996176CC>TT	uc003ccs.2	+	1	483_484	c.164_165CC>TT	c.(163-165)ccc>cTT	p.P55L	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_5'UTR	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	55					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						AATGGTAATCCCAAGAATGGTG	0.416000														112			26		0	0	0.004672	0	0
OR2T34	127068	broad.mit.edu	37	1	248737705	248737705	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248737705G>A	uc001iep.1	-	0	354	c.354C>T	c.(352-354)ttC>ttT	p.F118F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCAGGAGGAAAACCTCAG	0.562000														53			25		0	0	0.002836	0	0
RTDR1	27156	broad.mit.edu	37	22	23401895	23401895	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:23401895C>T	uc002zwt.3	-	7	949	c.791_splice	c.e7-1	p.G264_splice		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	264							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCGCATACTTCCCTGCAGGCC	0.632000														67			25		0	0	0.005443	0	0
LCE3D	84648	broad.mit.edu	37	1	152552378	152552378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152552378G>A	uc021oza.1	-	0	35	c.35C>T	c.(34-36)cCc>cTc	p.P12L	LCE3D_uc001fab.3_Missense_Mutation_p.P12L	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	12					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CTTGGGTGGGGGTTGGCACTG	0.562000														101			30		0	0	0.003755	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130716	20130716	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:20130716A>G	uc002zrr.2	+	9	1670	c.1563A>G	c.(1561-1563)ctA>ctG	p.L521L	ZDHHC8_uc002zrq.3_Silent_p.L521L|ZDHHC8_uc010gsa.3_Silent_p.L327L	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	521						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CACGGCCCCTACCCCGCAGCT	0.711000														25			18		0	0	0.001882	0	0
NCOR2	9612	broad.mit.edu	37	12	124827585	124827585	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:124827585G>A	uc021rga.1	-	32	5040	c.4923C>T	c.(4921-4923)ccC>ccT	p.P1641P	NCOR2_uc021rgb.1_Silent_p.P1625P|NCOR2_uc010tbb.2_Silent_p.P1634P|NCOR2_uc010tbc.2_Silent_p.P1624P|NCOR2_uc021rgc.1_Silent_p.P1624P|NCOR2_uc010tba.2_Silent_p.P1642P|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1642					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTATGGAGGTGGGGTCGAAGG	0.657000														13			17		0	0	0.006122	0	0
ADH1C	126	broad.mit.edu	37	4	100264168	100264168	+	RNA	SNP	G	A	A	rs78113489		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100264168G>A	uc021xqi.1	-	5		c.697C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGATAGGCCGACCCCTCCCA	0.438000														142			81		0	0	0.003610	0	0
AKAP6	9472	broad.mit.edu	37	14	33016037	33016037	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:33016037C>T	uc001wrq.3	+	3	2348	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	AKAP6_uc010aml.3_Silent_p.S723S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	726					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATGAGGAGTCCAGTATGCCTC	0.473000														55			22		0	0	0.001882	0	0
CACNA1E	777	broad.mit.edu	37	1	181725216	181725216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181725216G>A	uc009wxt.3	+	28	4309	c.4114G>A	c.(4114-4116)Gaa>Aaa	p.E1372K	CACNA1E_uc001gow.3_Missense_Mutation_p.E1372K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E1353K|CACNA1E_uc001gox.1_Missense_Mutation_p.E598K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1372		Calcium ion selectivity and permeability (By similarity).			energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCACAGGGGAAGGATGGCC	0.527000														32			11		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9068878	9068878	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9068878C>T	uc002mkp.3	-	2	18772	c.18568G>A	c.(18568-18570)Gat>Aat	p.D6190N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6192	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTACAAAATCCTGAGTTCTG	0.473000														79			64		0	0	0.003610	0	0
OR10A6	390093	broad.mit.edu	37	11	7949293	7949293	+	Missense_Mutation	SNP	C	T	T	rs148940548	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:7949293C>T	uc010rbh.2	-	0	917	c.917G>A	c.(916-918)cGa>cAa	p.R306Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACTCGCCTTCGCCATAATTT	0.373000														55			31		0	0	0.004878	0	0
TEC	7006	broad.mit.edu	37	4	48147213	48147213	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:48147213C>T	uc003gxz.3	-	13	1444	c.1353G>A	c.(1351-1353)ctG>ctA	p.L451L		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	451	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGAGGAAATTCAGAAGGCAGC	0.473000														77			40		0	0	0.005524	0	0
STAB2	55576	broad.mit.edu	37	12	104063395	104063395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:104063395G>A	uc001tjw.3	+	20	2435	c.2249G>A	c.(2248-2250)gGa>gAa	p.G750E		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	750	EGF-like 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G750R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATGCTCAGGAAATGGACAG	0.413000														33			25		0	0	0.003954	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801055	185801055	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185801055T>C	uc002uph.3	+	3	1526	c.932T>C	c.(931-933)tTt>tCt	p.F311S		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	311						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTACCTTCATTTTGCAAGTTT	0.338000														28			15		0	0	0.004007	0	0
TMEM225	338661	broad.mit.edu	37	11	123753985	123753985	+	Missense_Mutation	SNP	C	T	T	rs77654932	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:123753985C>T	uc001pzi.3	-	3	746	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	180						integral to membrane		p.E180K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCCTTACATTCGTTGTCAGAT	0.443000														17			18		0	0	0.004990	0	0
PRKCQ	5588	broad.mit.edu	37	10	6506358	6506358	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:6506358G>A	uc001iji.1	-	11	1545	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	PRKCQ_uc001ijj.2_Silent_p.L454L|PRKCQ_uc009xim.2_Silent_p.L454L|PRKCQ_uc009xin.2_Silent_p.L418L|PRKCQ_uc010qax.2_Silent_p.L329L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	454	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.A486V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCACAAAAAAGAGGTTTTCCT	0.408000														179			83		0	0	0.003610	0	0
CORIN	10699	broad.mit.edu	37	4	47602343	47602343	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:47602343C>T	uc003gxm.3	-	20	2927	c.2834G>A	c.(2833-2835)gGa>gAa	p.G945E	CORIN_uc011bzf.2_Missense_Mutation_p.G806E|CORIN_uc011bzg.2_Missense_Mutation_p.G878E	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	945	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GCGGACCTCTCCCTCTTGCAG	0.393000														54			20		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179582292	179582292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179582292G>A	uc021vsy.1	-	83	21802	c.21577C>T	c.(21577-21579)Cct>Tct	p.P7193S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P3854S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8120							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCCAAGAGGATTAGAAGCA	0.443000														22			13		0	0	0.002450	0	0
MERTK	10461	broad.mit.edu	37	2	112786332	112786332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:112786332G>A	uc002thk.1	+	18	3013	c.2891G>A	c.(2890-2892)aGg>aAg	p.R964K	MERTK_uc002thl.1_Missense_Mutation_p.R788K	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	964					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGACTTGTTAGGAATGGGGTC	0.532000														14			10		0	0	0.006214	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854245	12854245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12854245G>A	uc001auj.2	+	2	572	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	157										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCA	0.493000														267			84		0	0	0.003610	0	0
TKTL2	84076	broad.mit.edu	37	4	164393819	164393819	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:164393819C>T	uc003iqp.4	-	0	1229	c.1068G>A	c.(1066-1068)agG>agA	p.R356R		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	356						cytoplasm	metal ion binding|transketolase activity	p.F355L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGTGTTCTTTCCTGAATATCT	0.438000														71			33		0	0	0.002096	0	0
GABRA3	2556	broad.mit.edu	37	X	151424271	151424271	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:151424271C>T	uc010ntk.1	-	4	770	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	177					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAGGAGGGTTCCGTTGTCCAC	0.478000														36			70		0	0	0.003610	0	0
CNTN5	53942	broad.mit.edu	37	11	99690341	99690341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99690341C>T	uc001pga.3	+	3	626	c.122C>T	c.(121-123)tCa>tTa	p.S41L	CNTN5_uc009ywv.2_Missense_Mutation_p.S41L|CNTN5_uc001pfz.3_Missense_Mutation_p.S41L|CNTN5_uc021qpb.1_Missense_Mutation_p.S41L|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	41					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGAAGAGTTCATCTTCATCT	0.403000														56			25		0	0	0.003954	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502505	140502505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140502505G>A	uc003lip.1	+	0	925	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTGGATTTCGAAAAAATTAA	0.358000														77			78		0	0	0.003610	0	0
ZNF217	7764	broad.mit.edu	37	20	52192361	52192361	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:52192361G>A	uc002xwq.4	-	2	3284	c.2942C>T	c.(2941-2943)cCa>cTa	p.P981L	ZNF217_uc010gij.1_Missense_Mutation_p.P973L	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	981					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CAGCACATTTGGAGAATCGAC	0.552000														37			32		0	0	0.002445	0	0
IGDCC3	9543	broad.mit.edu	37	15	65621279	65621279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:65621279G>A	uc002aos.2	-	13	2665	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W	IGDCC3_uc002aor.1_Missense_Mutation_p.R91W	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	805										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGTAACCCGGGCCGCTGCA	0.677000														38			25		0	0	0.004656	0	0
MAPK4	5596	broad.mit.edu	37	18	48255649	48255649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48255649C>T	uc002lev.3	+	5	2189	c.1189C>T	c.(1189-1191)Ccg>Tcg	p.P397S	MAPK4_uc010xdm.2_Missense_Mutation_p.P186S|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	397					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GCAGGTGGACCCGCGCAAGGA	0.706000														41			9		0	0	0.004482	0	0
MUC16	94025	broad.mit.edu	37	19	9067233	9067233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9067233C>T	uc002mkp.3	-	2	20417	c.20213G>A	c.(20212-20214)cGa>cAa	p.R6738Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6740	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCTGTTCGAGTGATGAT	0.502000														206			178		0	0	0.003610	0	0
NVL	4931	broad.mit.edu	37	1	224437954	224437954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:224437954G>A	uc001hok.3	-	18	2311	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	NVL_uc001hol.3_Missense_Mutation_p.P644L|NVL_uc010pvd.2_Missense_Mutation_p.P659L|NVL_uc010pve.2_Missense_Mutation_p.P561L|NVL_uc010pvf.2_Non-coding_Transcript	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	750						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATCTGCAGGGGGCGGTAAACC	0.398000														105			43		0	0	0.003610	0	0
DDX60L	91351	broad.mit.edu	37	4	169305793	169305793	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169305793C>T	uc021xuh.1	-	28	4196	c.4086G>A	c.(4084-4086)aaG>aaA	p.K1362K	DDX60L_uc003irq.4_Silent_p.K1362K	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1362							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGTCATCTCCCTTGGAAGCCA	0.542000														26			5		0	0	0.001984	0	0
NEFM	4741	broad.mit.edu	37	8	24775422	24775422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24775422C>T	uc003xed.4	+	2	2087	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Missense_Mutation_p.S309L	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	685	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GTGCCAAAATCACCAGTGgaa	0.473000														39			22		0	0	0.002299	0	0
CGNL1	84952	broad.mit.edu	37	15	57730914	57730914	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:57730914C>T	uc010bfw.3	+	2	910	c.717C>T	c.(715-717)agC>agT	p.S239S	CGNL1_uc002aeg.3_Silent_p.S239S	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	239	Head.			S -> G (in Ref. 1; AAT37906).		myosin complex|tight junction	motor activity	p.Q238Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACGTTCAGAGCTGCACCAAGG	0.562000														77			31		0	0	0.002836	0	0
LIPN	643418	broad.mit.edu	37	10	90537773	90537773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:90537773C>T	uc010qmw.2	+	8	971	c.971C>T	c.(970-972)cCc>cTc	p.P324L		NM_001102469	NP_001095939	Q5VXI9	LIPN_HUMAN	Homo sapiens lipase, family member N (LIPN), mRNA.	324					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CAGAGTCATCCCCCTATATAT	0.488000														39			12		0	0	0.000978	0	0
HYDIN	54768	broad.mit.edu	37	16	70995892	70995892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:70995892C>T	uc002ezr.3	-	37	6086	c.5935G>A	c.(5935-5937)Gag>Aag	p.E1979K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1980	Poly-Glu.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGCTTTCCTCATCCTCCTCT	0.458000														50			20		0	0	0.002096	0	0
HSD17B3	3293	broad.mit.edu	37	9	99015188	99015188	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:99015188C>T	uc004awa.1	-	3	330	c.282G>A	c.(280-282)cgG>cgA	p.R94R	HSD17B3_uc010msc.1_Silent_p.R94R	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	94					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	p.R94Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	TCCCTGTAGTCCGCTCTACAC	0.423000														31			37		0	0	0.004878	0	0
ZBTB41	360023	broad.mit.edu	37	1	197168953	197168953	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:197168953A>G	uc001gtx.1	-	0	720	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZBTB41_uc009wyz.1_Non-coding_Transcript|CRB1_uc010poz.2_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ACTTTTTATAACAAAAATGTC	0.338000														31			8		0	0	0.003080	0	0
WDR72	256764	broad.mit.edu	37	15	54025336	54025336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:54025336G>A	uc002acj.2	-	1	53	c.11C>T	c.(10-12)tCc>tTc	p.S4F	WDR72_uc010bfi.1_Missense_Mutation_p.S4F	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	4										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGCCTGCAGGGAAGTCCTCAT	0.473000														73			18		0	0	0.007413	0	0
ENPP5	59084	broad.mit.edu	37	6	46135864	46135864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46135864C>T	uc003oxz.1	-	1	344	c.136G>A	c.(136-138)Gtt>Att	p.V46I	ENPP5_uc010jzc.1_Missense_Mutation_p.V46I|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V46I	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	46						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GGCGTTGGAACTTTATATAAG	0.358000														40			11		0	0	0.008291	0	0
MME	4311	broad.mit.edu	37	3	154861352	154861352	+	Missense_Mutation	SNP	A	G	G	rs35303134		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:154861352A>G	uc010hvr.1	+	12	1520	c.1309A>G	c.(1309-1311)Aaa>Gaa	p.K437E	MME_uc003fab.1_Missense_Mutation_p.K437E|MME_uc003fac.1_Missense_Mutation_p.K437E|MME_uc003fad.1_Missense_Mutation_p.K437E|MME_uc003fae.1_Missense_Mutation_p.K437E	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	437					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TGGAGAGAGTAAACATGTGGT	0.403000														51			25		0	0	0.005443	0	0
SHROOM3	57619	broad.mit.edu	37	4	77652048	77652048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:77652048G>A	uc011cbx.2	+	3	1500	c.547G>A	c.(547-549)Ggt>Agt	p.G183S	SHROOM3_uc011cbz.1_Missense_Mutation_p.G7S|SHROOM3_uc003hkf.1_Missense_Mutation_p.G58S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	183					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GATATCTCAGGGTATGATCGG	0.522000														136			54		0	0	0.003610	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86915979	86915979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:86915979C>T	uc003hpk.3	+	8	1621	c.1172C>T	c.(1171-1173)tCc>tTc	p.S391F	ARHGAP24_uc003hpl.3_Missense_Mutation_p.S296F|ARHGAP24_uc010ikf.3_Missense_Mutation_p.S306F|ARHGAP24_uc003hpm.3_Missense_Mutation_p.S298F	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	391					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AACAATGGATCCCCCACAGCT	0.498000														115			59		0	0	0.003610	0	0
HR	55806	broad.mit.edu	37	8	21986139	21986139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:21986139G>A	uc003xas.3	-	1	1210	c.545C>T	c.(544-546)aCc>aTc	p.T182I	HR_uc003xat.3_Missense_Mutation_p.T182I|HR_uc010lts.2_Missense_Mutation_p.T182I	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	182							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGTGCGGGGTCAGGGGCCA	0.642000														15			10		0	0	0.000978	0	0
DAB1	1600	broad.mit.edu	37	1	57491671	57491671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57491671C>T	uc009vzx.1	-	9	1089	c.769G>A	c.(769-771)Gat>Aat	p.D257N	DAB1_uc001cyt.1_Missense_Mutation_p.D255N|DAB1_uc001cyq.1_Missense_Mutation_p.D255N|DAB1_uc001cyr.1_Missense_Mutation_p.D171N|DAB1_uc009vzw.1_Missense_Mutation_p.D239N|DAB1_uc001cys.1_Missense_Mutation_p.D257N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	290					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GAGGTTATATCAGGGGGTGTG	0.473000														117			56		0	0	0.003610	0	0
COL4A4	1286	broad.mit.edu	37	2	227954611	227954611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:227954611C>T	uc021vxr.1	-	19	1533	c.1432G>A	c.(1432-1434)Gga>Aga	p.G478R	COL4A4_uc021vxs.1_Missense_Mutation_p.G478R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	478	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTCCTCCTGGGGGACCA	0.488000														38			13		0	0	0.003163	0	0
DCC	1630	broad.mit.edu	37	18	50866120	50866120	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:50866120G>A	uc002lfe.2	+	14	2818	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	DCC_uc010xdr.1_Silent_p.V582V|DCC_uc010dpf.2_Silent_p.V389V	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	734	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCTTCATGTGAGGCCCCAGA	0.463000														98			39		0	0	0.002852	0	0
LGR4	55366	broad.mit.edu	37	11	27412695	27412695	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:27412695T>C	uc001mrj.4	-	3	832	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	LGR4_uc001mrk.4_Missense_Mutation_p.Q92R	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	116						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGTTTTCAACTGATTATTCTG	0.368000														33			27		0	0	0.001786	0	0
CCDC87	55231	broad.mit.edu	37	11	66358132	66358132	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:66358132G>A	uc001oiq.4	-	0	2423	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	785										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCCAGGAGGGAAACCAAAG	0.488000														130			61		0	0	0.003610	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64484030	64484030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:64484030C>T	uc003jtp.3	-	21	3537	c.2723G>A	c.(2722-2724)tGg>tAg	p.W908*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	908	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCATTCCAACCAATCCCCAAT	0.493000														94			37		0	0	0.006230	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41015499	41015499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:41015499G>A	uc003jmj.4	-	28	3456	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S544F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	989							binding	p.S989Y(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TATTTTAGAAGAAATCTTGAT	0.418000														41			17		0	0	0.008871	0	0
GPR65	8477	broad.mit.edu	37	14	88477563	88477563	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:88477563C>T	uc021rxh.1	+	0	372	c.372C>T	c.(370-372)ttC>ttT	p.F124F	GPR65_uc001xvv.3_Silent_p.F124F	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	124					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						AGTTTTTTTTCCTAAGGACAA	0.418000														108			59		0	0	0.003610	0	0
CIITA	4261	broad.mit.edu	37	16	11000825	11000826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:11000825_11000826CC>TT	uc002daj.4	+	10	1612_1613	c.1479_1480CC>TT	c.(1477-1482)gaccgc>gaTTgc	p.R494C	CIITA_uc002dai.4_Missense_Mutation_p.R493C|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.R493C|CIITA_uc002dah.2_Missense_Mutation_p.R445C|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	493	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGAGACCTGACCGCGTTCTGCT	0.644000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									98			36		0	0	0.004672	0	0
CFB	629	broad.mit.edu	37	6	31905098	31905098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31905098C>T	uc011dor.2	+	4	796	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	CFB_uc003nyc.2_Missense_Mutation_p.H118Y|CFB_uc011doo.2_Missense_Mutation_p.H85Y|CFB_uc011dop.2_Missense_Mutation_p.H117Y|CFB_uc003nyf.3_Missense_Mutation_p.H331Y|CFB_uc010jtk.3_Missense_Mutation_p.H199Y|CFB_uc011doq.2_Missense_Mutation_p.H302Y|CFB_uc003nyh.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	347	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TATTCCAGATCATGAAAATGG	0.453000														208			195		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110477153	110477153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:110477153G>A	uc003yne.3	+	48	8196	c.8092G>A	c.(8092-8094)Gaa>Aaa	p.E2698K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2698					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGTGGGGTGAAACCAATGG	0.478000										HNSCC(38;0.096)				86			42		0	0	0.002852	0	0
BNIP3L	665	broad.mit.edu	37	8	26248922	26248922	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:26248922A>T	uc003xex.1	+	1	388	c.264A>T	c.(262-264)agA>agT	p.R88S	BNIP3L_uc010luh.1_Intron|BNIP3L_uc010lui.1_Missense_Mutation_p.R48S|BNIP3L_uc003xey.2_Missense_Mutation_p.R48S	NM_004331	NP_004322	O60238	BNI3L_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3-like (BNIP3L), mRNA.	88					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity			large_intestine(3)|lung(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)		GTAGTTCCAGAGGCAGTTCTC	0.473000														23			6		0	0	0.001168	0	0
MFSD6	54842	broad.mit.edu	37	2	191302285	191302285	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:191302285C>T	uc002urz.2	+	2	1854	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	510					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCGGCCACATCAGGTAAGAAC	0.383000														55			28		0	0	0.005443	0	0
MAPK4	5596	broad.mit.edu	37	18	48190830	48190830	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48190830G>A	uc002lev.3	+	1	1502	c.502G>A	c.(502-504)Gat>Aat	p.D168N	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.D168N	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	168	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CAAGATTGGGGATTTCGGGTT	0.547000														68			57		0	0	0.003610	0	0
DRD2	1813	broad.mit.edu	37	11	113283384	113283384	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:113283384C>T	uc001pnz.3	-	5	1353	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	DRD2_uc010rwv.2_Silent_p.Q343Q|DRD2_uc001poa.4_Silent_p.Q344Q|DRD2_uc001pob.4_Silent_p.Q315Q	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	344	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TGGGCATGGTCTGGATCTCAA	0.562000														32			25		0	0	0.003954	0	0
USP46	64854	broad.mit.edu	37	4	53494304	53494304	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:53494304G>A	uc003gzn.3	-	2	329	c.144C>T	c.(142-144)tcC>tcT	p.S48S	USP46_uc003gzm.4_Silent_p.S41S|USP46_uc011bzr.2_Intron|USP46_uc011bzs.2_5'UTR	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	48					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			CCTGAAGCACGGAGTTACAGT	0.527000														23			11		0	0	0.000978	0	0
ZEB1	6935	broad.mit.edu	37	10	31809946	31809946	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:31809946C>T	uc001ivs.4	+	6	1746	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	ZEB1_uc001ivr.4_Silent_p.L343L|ZEB1_uc010qef.2_Silent_p.L343L|ZEB1_uc009xlj.1_Silent_p.L487L|ZEB1_uc010qeg.1_Silent_p.L420L|ZEB1_uc009xlk.1_Silent_p.L343L|ZEB1_uc001ivu.4_Silent_p.L562L|ZEB1_uc010qeh.2_Silent_p.L494L|ZEB1_uc001ivv.4_Silent_p.L541L|ZEB1_uc001ivt.4_Silent_p.L343L|ZEB1_uc009xlo.2_Silent_p.L544L|ZEB1_uc009xlp.3_Silent_p.L545L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	561					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCCTCCACTCCCTGCAGCAG	0.463000														37			18		0	0	0.004990	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908943	158908943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158908943C>T	uc001ftb.3	+	3	735	c.485C>T	c.(484-486)tCc>tTc	p.S162F	PYHIN1_uc001fta.4_Missense_Mutation_p.S162F|PYHIN1_uc001ftc.3_Missense_Mutation_p.S153F|PYHIN1_uc001ftd.3_Missense_Mutation_p.S162F|PYHIN1_uc001fte.3_Missense_Mutation_p.S153F	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	162					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTCGGCCTTCCTGCTCTGCA	0.488000														79			29		0	0	0.007291	0	0
INADL	10207	broad.mit.edu	37	1	62582327	62582327	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:62582327G>A	uc001dab.3	+	35	4893	c.4779G>A	c.(4777-4779)caG>caA	p.Q1593Q	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Silent_p.Q407Q|INADL_uc009wag.3_Silent_p.Q377Q	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1593	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATGCCTCACAGGAGACAGTGG	0.512000														31			12		0	0	0.001368	0	0
HMGCS2	3158	broad.mit.edu	37	1	120307181	120307181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:120307181G>A	uc001eid.3	-	1	261	c.173C>T	c.(172-174)gCc>gTc	p.A58V	HMGCS2_uc010oxj.2_Missense_Mutation_p.A58V|HMGCS2_uc021osx.1_5'UTR	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	58					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GACCTCCAGGGCCAGGATGCC	0.517000														334			155		0	0	0.003610	0	0
RASA4	10156	broad.mit.edu	37	7	102246347	102246347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:102246347C>T	uc003vae.3	-	4	455	c.386G>A	c.(385-387)gGg>gAg	p.G129E	RASA4_uc011kla.2_Missense_Mutation_p.G57E|RASA4_uc010lig.3_Missense_Mutation_p.G57E|RASA4_uc003vaf.3_Missense_Mutation_p.G129E|RASA4_uc011klb.2_Missense_Mutation_p.G57E|RASA4_uc010lih.2_5'UTR|RASA4_uc011kld.1_Intron	NM_006989	NP_008920	O43374	RASL2_HUMAN	Homo sapiens RAS p21 protein activator 4 (RASA4), transcript variant 1, mRNA.	129	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytosol|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding	p.G129R(1)		lung(1)|prostate(1)|urinary_tract(1)	3						GGCCCGGGCCCCTGGCCACAC	0.687000														6			4		0	0	0.000248	0	0
EXPH5	23086	broad.mit.edu	37	11	108383909	108383909	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:108383909C>T	uc001pkk.3	-	5	2436	c.2325G>A	c.(2323-2325)agG>agA	p.R775R	EXPH5_uc010rvz.2_Silent_p.R619R|EXPH5_uc010rvy.2_Silent_p.R587R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	775					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTATCTTTCCTGGAAAAGA	0.378000														56			56		0	0	0.003610	0	0
TRIM10	10107	broad.mit.edu	37	6	30128312	30128312	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30128312G>A	uc003npo.3	-	0	400	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TRIM10_uc003npn.2_Silent_p.F108F|TRIM15_uc010jrx.3_5'Flank	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	108						cytoplasm	zinc ion binding			ovary(1)	1						CCTCACAGAAGAAGTAGATCT	0.587000														96			34		0	0	0.004878	0	0
PCLO	27445	broad.mit.edu	37	7	82584101	82584101	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:82584101C>T	uc003uhx.2	-	4	6457	c.6168G>A	c.(6166-6168)agG>agA	p.R2056R	PCLO_uc003uhv.2_Silent_p.R2056R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1987					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E2055K(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGTAGTTTCCTTTCTTCTT	0.448000														50			15		0	0	0.002450	0	0
SEPT4	5414	broad.mit.edu	37	17	56598977	56598977	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56598977T>G	uc010wnx.2	-	8	1136	c.991A>C	c.(991-993)Aag>Cag	p.K331Q	SEPT4_uc002iwk.2_Missense_Mutation_p.K169Q|SEPT4_uc010wnw.2_Missense_Mutation_p.K169Q|SEPT4_uc002iwl.2_Missense_Mutation_p.K169Q|SEPT4_uc002iwm.2_Missense_Mutation_p.K316Q|SEPT4_uc002iwo.2_Missense_Mutation_p.K297Q|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Missense_Mutation_p.K308Q|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	316					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGATAGATCTTGATTCCAAAA	0.517000														102			63		0	0	0.003610	0	0
ZNF521	25925	broad.mit.edu	37	18	22804660	22804660	+	Silent	SNP	G	A	A	rs111582451		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:22804660G>A	uc002kvk.2	-	3	3469	c.3222C>T	c.(3220-3222)ttC>ttT	p.F1074F	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.F1074F|ZNF521_uc002kvl.2_Silent_p.F854F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1074					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCTTGGAACGGAATTCTTTGA	0.517000			T	PAX5	ALL									70			34		0	0	0.003271	0	0
PNLIP	5406	broad.mit.edu	37	10	118314901	118314901	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:118314901G>A	uc001lcm.3	+	8	735	c.692_splice	c.e8-1	p.G231_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	231					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGATTTCAGGGTTTGGAATGA	0.428000														53			24		0	0	0.003954	0	0
ALMS1	7840	broad.mit.edu	37	2	73680141	73680141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:73680141G>A	uc002sje.1	+	7	6595	c.6484G>A	c.(6484-6486)Gaa>Aaa	p.E2162K	ALMS1_uc002sjf.1_Missense_Mutation_p.E2120K|ALMS1_uc002sjg.3_Missense_Mutation_p.E1550K|ALMS1_uc002sjh.1_Missense_Mutation_p.E1550K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2162	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACATCTAACTGAAGATGCTCT	0.398000														44			18		0	0	0.007413	0	0
ZNF679	168417	broad.mit.edu	37	7	63720629	63720629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:63720629G>A	uc003tsx.3	+	2	339	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTAGTCATAGAATTCTCTCT	0.423000														36			18		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179639084	179639084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179639084C>T	uc021vsy.1	-	29	7132	c.6907G>A	c.(6907-6909)Gat>Aat	p.D2303N	TTN_uc021vsz.1_Missense_Mutation_p.D2257N|TTN_uc021vta.1_Missense_Mutation_p.D2257N|TTN_uc021vtb.1_Missense_Mutation_p.D2257N|TTN_uc002unb.2_Missense_Mutation_p.D2303N|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2303	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTCCACATCATTATGATAC	0.398000														90			31		0	0	0.002836	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794068	14794068	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:14794068C>T	uc001rcd.3	-	17	2153	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	672	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCAGGATGATCTCCTGTGCGA	0.512000														53			30		0	0	0.008361	0	0
ADARB2	105	broad.mit.edu	37	10	1229275	1229275	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:1229275G>T	uc009xhq.3	-	9	2404	c.2078C>A	c.(2077-2079)cCc>cAc	p.P693H	ADARB2_uc001igj.2_Missense_Mutation_p.P77H|ADARB2_uc001igl.4_Missense_Mutation_p.P55H|ADARB2_uc001igm.4_Missense_Mutation_p.P202H	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	693	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T692M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTACATGGAGGGCGTGTCTCC	0.582000														35			20		7.87624e-14	1.42281e-13	0.002780	1	0
LILRA4	23547	broad.mit.edu	37	19	54849947	54849947	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:54849947G>A	uc002qfj.3	-	2	132	c.75C>T	c.(73-75)aaC>aaT	p.N25N	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	25	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTTGGGTAGGTTTTCTGGAA	0.602000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		14			18		0	0	0.007413	0	0
MAGEC3	139081	broad.mit.edu	37	X	140983078	140983078	+	Silent	SNP	C	T	T	rs146271957		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:140983078C>T	uc011mwp.2	+	4	933	c.933C>T	c.(931-933)ttC>ttT	p.F311F	MAGEC3_uc004fbs.3_5'UTR|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	311	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCAGGGTTCGCGGATGTGC	0.612000														24			43		0	0	0.003610	0	0
WAS	7454	broad.mit.edu	37	X	48546477	48546477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:48546477G>A	uc004dkm.4	+	7	826	c.769G>A	c.(769-771)Gga>Aga	p.G257R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	257					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCCCCAGAATGGATTTGACGT	0.552000			"""Mis, N, F, S"""			lymphoma								7			9		0	0	0.006214	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576558	33576558	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:33576558A>T	uc003jia.1	-	18	3736	c.3573T>A	c.(3571-3573)agT>agA	p.S1191R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.S1106R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1191	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCATTTCTGTACTTTCCACTG	0.507000										HNSCC(64;0.19)				125			44		0	0	0.003610	0	0
RNF165	494470	broad.mit.edu	37	18	44013377	44013377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:44013377C>T	uc002lcb.1	+	1	337	c.286C>T	c.(286-288)Ccc>Tcc	p.P96S	RNF165_uc002lby.1_Missense_Mutation_p.P29S|RNF165_uc010dnn.1_Intron	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	96							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CGTCACAGGTCCCTCCTTCCT	0.687000														51			30		0	0	0.002445	0	0
DENND1C	79958	broad.mit.edu	37	19	6475371	6475371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:6475371C>T	uc002mfe.3	-	13	1059	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.A279T	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	323						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TCCCCGGGGGCCAGGGCGACC	0.711000														12			4		0	0	0.000248	0	0
SLC9A1	6548	broad.mit.edu	37	1	27440722	27440722	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:27440722G>A	uc001bnm.3	-	1	1034	c.408C>T	c.(406-408)atC>atT	p.I136I	SLC9A1_uc010ofk.2_Intron|SLC9A1_uc001bnn.2_Silent_p.I136I	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	136					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCCCCACCACGATCAGCAGGC	0.632000														52			19		0	0	0.002299	0	0
CRYZL1	9946	broad.mit.edu	37	21	34969608	34969608	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:34969608A>G	uc021wio.1	-	9	956	c.776T>C	c.(775-777)gTa>gCa	p.V259A	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.V283A|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript|DONSON_uc002ysm.3_5'Flank|DONSON_uc002ysp.3_5'Flank|DONSON_uc002ysq.3_Non-coding_Transcript	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	259					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TTCTGTTGTTACCCAGTGGCC	0.363000														55			27		0	0	0.005443	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004616	52004616	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52004616C>T	uc002pwx.1	-	0	428	c.372G>A	c.(370-372)gaG>gaA	p.E124E	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	124	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATTTCCTCTCTCTACACAAA	0.478000														38			36		0	0	0.003755	0	0
DIDO1	11083	broad.mit.edu	37	20	61512940	61512940	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:61512940G>A	uc002ydr.2	-	15	4680	c.4368C>T	c.(4366-4368)tcC>tcT	p.S1456S	DIDO1_uc002yds.2_Silent_p.S1456S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1456					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCTCTCCACGGAGTTCCTTC	0.582000														66			47		0	0	0.003610	0	0
FLRT2	23768	broad.mit.edu	37	14	86088912	86088912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:86088912G>A	uc021rxf.1	+	0	1054	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	FLRT2_uc001xvr.3_Missense_Mutation_p.E352K|FLRT2_uc010atd.3_Missense_Mutation_p.E352K	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	352	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GGCCGTCAGGGAATTAAATAT	0.542000														113			45		0	0	0.003610	0	0
MAN2B1	4125	broad.mit.edu	37	19	12759129	12759129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:12759129G>A	uc002mub.2	-	20	2600	c.2524C>T	c.(2524-2526)Cac>Tac	p.H842Y	MAN2B1_uc010dyv.1_Missense_Mutation_p.H841Y	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	842					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGCACCAGGTGGCGCCCTCGC	0.706000														25			9		0	0	0.000978	0	0
C4orf21	55345	broad.mit.edu	37	4	113475032	113475032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:113475032C>T	uc003iau.3	-	21	5516	c.5305G>A	c.(5305-5307)Gag>Aag	p.E1769K	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.E227K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTATGCTGCTCAATGCTTTTT	0.378000														49			19		0	0	0.001523	0	0
RYR1	6261	broad.mit.edu	37	19	39038895	39038895	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:39038895C>T	uc002oit.3	+	88	12247	c.12117C>T	c.(12115-12117)atC>atT	p.I4039I	RYR1_uc002oiu.3_Silent_p.I4034I|RYR1_uc002oiv.1_Silent_p.I948I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4039					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACGGCATGATCGCCCGGCAGA	0.577000														16			19		0	0	0.001882	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541696	96541696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96541696C>T	uc010qnz.2	+	4	761	c.761C>T	c.(760-762)tCg>tTg	p.S254L	CYP2C19_uc009xus.1_Missense_Mutation_p.S119L|CYP2C19_uc010qny.2_Missense_Mutation_p.S232L	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	254					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.E253K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACCAAGAATCGATGGACATC	0.353000														57			25		0	0	0.005443	0	0
FAM59A	64762	broad.mit.edu	37	18	29848122	29848122	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:29848122G>A	uc002kxl.3	-	5	2399	c.2343C>T	c.(2341-2343)taC>taT	p.Y781Y	FAM59A_uc002kxk.2_Silent_p.Y780Y	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	781										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						ATGAGAAAGGGTAGGAGGCAG	0.552000														43			12		0	0	0.000978	0	0
AADAC	13	broad.mit.edu	37	3	151532020	151532020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:151532020C>T	uc003eze.3	+	0	160	c.70C>T	c.(70-72)Cca>Tca	p.P24S	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	24					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TACGCCTCTCCCAGATAACGT	0.403000														61			23		0	0	0.003330	0	0
CELSR3	1951	broad.mit.edu	37	3	48687946	48687946	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:48687946G>A	uc003cuf.1	-	17	6649	c.6649C>T	c.(6649-6651)Ctg>Ttg	p.L2217L	CELSR3_uc010hkg.3_Silent_p.L125L|CELSR3_uc003cul.3_Silent_p.L2147L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2147					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTGTGGCCAGGACGCCAAAC	0.612000														17			6		0	0	0.001984	0	0
MACC1	346389	broad.mit.edu	37	7	20199780	20199780	+	Nonsense_Mutation	SNP	C	T	T	rs140929570	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:20199780C>T	uc003sus.4	-	4	513	c.204G>A	c.(202-204)tgG>tgA	p.W68*	MACC1_uc010kug.3_Nonsense_Mutation_p.W68*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	68					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ACAGTTGATTCCAGAATGGAT	0.378000														53			27		0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38770971	38770972	+	Missense_Mutation	DNP	GG	AC	AC			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38770971_38770972GG>AC	uc021yzh.1	+	21	3027_3028	c.2918_2919GG>AC	c.(2917-2919)tgg>tAC	p.W973Y	DNAH8_uc003ooe.2_Missense_Mutation_p.W756Y	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAAAAGAATGGGCTGACATTC	0.302000														27			20		0	0	0.004672	0	0
KIAA0564	23078	broad.mit.edu	37	13	42161676	42161676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:42161676G>A	uc001uyj.3	-	41	5313	c.5243C>T	c.(5242-5244)gCc>gTc	p.A1748V		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1748	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		GTTCTCGAAGGCTTCCATGAC	0.478000														49			28		0	0	0.003271	0	0
TNN	63923	broad.mit.edu	37	1	175048543	175048543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175048543G>A	uc001gkl.1	+	2	597	c.484G>A	c.(484-486)Gag>Aag	p.E162K	TNN_uc010pmx.1_Missense_Mutation_p.E162K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	162					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGGGCAGGGAGGGCCCCGC	0.711000														20			5		0	0	0.000602	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133666165	133666165	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:133666165G>A	uc003eqa.4	-	8	1504	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLCO2A1_uc011blv.2_Silent_p.I229I	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	410					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAACACAAAGGATCATGGAGA	0.498000														57			27		0	0	0.002836	0	0
SALL3	27164	broad.mit.edu	37	18	76753362	76753362	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:76753362C>T	uc002lmt.3	+	1	1371	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	SALL3_uc010dra.3_Silent_p.F64F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGAACCGCTTCTCCACCAAAG	0.612000														21			8		0	0	0.003080	0	0
LAMA5	3911	broad.mit.edu	37	20	60891788	60891788	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:60891788G>A	uc002ycq.3	-	56	7762	c.7695C>T	c.(7693-7695)ctC>ctT	p.L2565L	LAMA5_uc021wfw.1_Silent_p.L2565L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2565	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGGCCAGGAGCTGCTGGG	0.682000														16			6		0	0	0.004482	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806746	15806746	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15806746G>A	uc002nbl.3	+	10	1235	c.1116_splice	c.e10-1	p.W372_splice		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GTTTCCTTAGGGACGACCTGG	0.517000														59			27		0	0	0.004289	0	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74574885	74574885	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:74574885A>G	uc002jsg.4	-	1	394	c.139T>C	c.(139-141)Ttt>Ctt	p.F47L		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	47					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						AATGCTTCAAATGATGTGGTG	0.502000														85			39		0	0	0.003214	0	0
TPR	7175	broad.mit.edu	37	1	186289548	186289548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:186289548G>A	uc001grv.3	-	45	6761	c.6464C>T	c.(6463-6465)tCg>tTg	p.S2155L	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2155					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.S2142L(2)|p.S2155L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACCTGCGGCGAACTAAATGG	0.388000			T	NTRK1	papillary thyroid									38			8		0	0	0.004482	0	0
ACTG1	71	broad.mit.edu	37	17	79478568	79478568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:79478568C>T	uc002kak.2	-	3	706	c.448G>A	c.(448-450)Ggc>Agc	p.G150S	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.G150S|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	150					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ATGACAATGCCAGTGGTGCGC	0.632000														81			29		0	0	0.002096	0	0
RASGRF1	5923	broad.mit.edu	37	15	79341870	79341870	+	Missense_Mutation	SNP	C	T	T	rs150981409	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:79341870C>T	uc002beq.3	-	3	967	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RASGRF1_uc002bep.3_Missense_Mutation_p.D198N|RASGRF1_uc010blm.1_Missense_Mutation_p.D120N|RASGRF1_uc002ber.4_Missense_Mutation_p.D198N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	198					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTCTTCATCGTTGGGGGCG	0.557000														56			11		0	0	0.000978	0	0
SPEF2	79925	broad.mit.edu	37	5	35641564	35641564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:35641564C>T	uc003jjo.3	+	2	304	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	SPEF2_uc003jjn.1_Missense_Mutation_p.R65C|SPEF2_uc003jjq.4_Missense_Mutation_p.R65C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	65	CH.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R65S(3)|p.R65H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAATTTTTCTCGCTTGGAGCC	0.378000														54			25		0	0	0.006320	0	0
BARHL2	343472	broad.mit.edu	37	1	91180111	91180111	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:91180111G>A	uc001dns.3	-	1	870	c.828C>T	c.(826-828)gtC>gtT	p.V276V		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	276						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ACCAGGTCTTGACTTGGGTGT	0.532000														86			32		0	0	0.003271	0	0
TTC27	55622	broad.mit.edu	37	2	32865405	32865405	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:32865405C>T	uc002rom.3	+	3	738	c.465C>T	c.(463-465)acC>acT	p.T155T	TTC27_uc010ymx.2_Silent_p.T105T	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	155							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACAGCCTGACCTCGAAGCCTA	0.383000														37			19		0	0	0.008871	0	0
MGP	4256	broad.mit.edu	37	12	15035175	15035175	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:15035175C>T	uc021qvr.1	-	4	413	c.285G>A	c.(283-285)agG>agA	p.R95R	MGP_uc001rcn.2_Silent_p.R70R	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	70	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CACAGGCTTCCCTATTGAGCT	0.458000														136			66		0	0	0.003610	0	0
WDR48	57599	broad.mit.edu	37	3	39129711	39129711	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:39129711C>T	uc003cit.3	+	14	1577	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	WDR48_uc011ayt.1_Missense_Mutation_p.R514C|WDR48_uc011ayu.1_Missense_Mutation_p.R441C|WDR48_uc011ayv.1_Missense_Mutation_p.R248C|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	523					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGCTGGAGGTCGCACACTGTT	0.458000														79			14		0	0	0.003163	0	0
MMP12	4321	broad.mit.edu	37	11	102743641	102743641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:102743641C>T	uc001phk.3	-	1	401	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	102					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CCTGGCATTTCCCTGAAATGA	0.507000														7			10		0	0	0.008291	0	0
SV2A	9900	broad.mit.edu	37	1	149884876	149884876	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:149884876C>A	uc001etg.3	-	1	1008	c.517G>T	c.(517-519)Ggt>Tgt	p.G173C	SV2A_uc001eth.2_Missense_Mutation_p.G173C	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	173					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGCGCCAGACCAAGCACAAAA	0.562000														45			48		1.21353e-23	2.20404e-23	0.003610	1	0
RAG2	5897	broad.mit.edu	37	11	36614256	36614256	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:36614256A>G	uc021qge.1	-	0	1463	c.1463T>C	c.(1462-1464)cTa>cCa	p.L488P	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.L488P|RAG2_uc021qgd.1_Missense_Mutation_p.L488P|RAG2_uc001mwv.4_Missense_Mutation_p.L488P|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	488					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGGAGTGTGTAGAGCTCTTGC	0.453000									Familial Hemophagocytic Lymphohistiocytosis					90			33		0	0	0.006999	0	0
PIK3CB	5291	broad.mit.edu	37	3	138456620	138456620	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:138456620A>G	uc011bmq.2	-	3	730	c.730T>C	c.(730-732)Tat>Cat	p.Y244H		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	244	PI3K-RBD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACATAATCATAGGGGCTAACT	0.353000														342			165		0	0	0.003610	0	0
MAST4	375449	broad.mit.edu	37	5	66461347	66461347	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:66461347G>A	uc021xzk.1	+	28	6648	c.6340G>A	c.(6340-6342)Gat>Aat	p.D2114N	MAST4_uc003jut.2_Missense_Mutation_p.D1925N|MAST4_uc003juw.3_Missense_Mutation_p.D1853N|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2117						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTGCAGAAAGATGGTGCCAA	0.577000														26			18		0	0	0.007413	0	0
CD1A	909	broad.mit.edu	37	1	158225007	158225007	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158225007C>T	uc001frt.3	+	1	725	c.192C>T	c.(190-192)atC>atT	p.I64I	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	64					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCAGCACCATCGTTTTCCTGT	0.483000														87			23		0	0	0.002299	0	0
MDGA1	266727	broad.mit.edu	37	6	37626190	37626190	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:37626190C>T	uc003onu.1	-	2	1392	c.213G>A	c.(211-213)cgG>cgA	p.R71R		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	71	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.R71Q(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TCTTGGTCCACCGTACCTGGG	0.662000														92			33		0	0	0.004878	0	0
HFM1	164045	broad.mit.edu	37	1	91816348	91816348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:91816348C>T	uc001doa.4	-	17	2252	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*	HFM1_uc009wdb.3_Intron|HFM1_uc010osu.2_Nonsense_Mutation_p.W397*|HFM1_uc010osv.1_Nonsense_Mutation_p.W402*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	718	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATCGTATCCATTCCACAGC	0.343000														72			34		0	0	0.004878	0	0
SENP7	57337	broad.mit.edu	37	3	101049186	101049186	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:101049186C>T	uc003dut.3	-	19	2854	c.2743G>A	c.(2743-2745)Gat>Aat	p.D915N	SENP7_uc003duu.3_Missense_Mutation_p.D850N|SENP7_uc003duv.3_Missense_Mutation_p.D882N|SENP7_uc003duw.3_Missense_Mutation_p.D849N|SENP7_uc003dux.3_Missense_Mutation_p.D751N|SENP7_uc003dus.3_Missense_Mutation_p.D103N	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	915	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.C914C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTTGGGAATCCTCTGCACTC	0.348000														28			19		0	0	0.003330	0	0
STAT4	6775	broad.mit.edu	37	2	191919235	191919235	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:191919235G>A	uc002usm.2	-	13	1547	c.1232C>T	c.(1231-1233)gCt>gTt	p.A411V	STAT4_uc002usn.2_Missense_Mutation_p.A411V|STAT4_uc010zgk.1_Missense_Mutation_p.A256V|STAT4_uc002uso.2_Missense_Mutation_p.A411V	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	411					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TTTACCTCCAGCACTGGACTT	0.323000														115			61		0	0	0.003610	0	0
LMO7	4008	broad.mit.edu	37	13	76395452	76395452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:76395452G>A	uc021rkq.1	+	13	2682	c.2347G>A	c.(2347-2349)Gga>Aga	p.G783R	LMO7_uc010thv.2_Missense_Mutation_p.G501R|LMO7_uc001vjt.1_Missense_Mutation_p.G449R|LMO7_uc001vjv.3_Missense_Mutation_p.G550R|LMO7_uc010thw.2_Missense_Mutation_p.G400R|LMO7_uc001vjw.1_Missense_Mutation_p.G456R	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	835						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.H782Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAAGAGAAGGGAGCAACTTA	0.428000														31			23		0	0	0.002299	0	0
ASTN1	460	broad.mit.edu	37	1	176853571	176853571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:176853571C>T	uc001glc.3	-	18	3342	c.3130G>A	c.(3130-3132)Gaa>Aaa	p.E1044K	ASTN1_uc001glb.1_Missense_Mutation_p.E1044K|ASTN1_uc001gld.1_Missense_Mutation_p.E1044K	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1052	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.E1044*(2)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGAGTGTTCCCACTCCAGG	0.537000														75			38		0	0	0.004878	0	0
WFS1	7466	broad.mit.edu	37	4	6303832	6303832	+	Silent	SNP	C	T	T	rs34384569		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:6303832C>T	uc003giy.3	+	7	2476	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	WFS1_uc003gix.3_Silent_p.F770F|WFS1_uc003giz.3_Silent_p.F588F	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	770					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCAAGAAGTTCGACCGCTACA	0.632000														201			93		0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29599330	29599330	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:29599330G>A	uc001usl.4	+	0	583	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	165						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTGGCAAAGACCCTTGACA	0.512000														65			33		0	0	0.004289	0	0
DAB1	1600	broad.mit.edu	37	1	57480852	57480852	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57480852G>A	uc009vzx.1	-	11	1468	c.1148C>T	c.(1147-1149)cCc>cTc	p.P383L	DAB1_uc001cyt.1_Missense_Mutation_p.P381L|DAB1_uc001cyq.1_Missense_Mutation_p.P381L|DAB1_uc001cyr.1_Missense_Mutation_p.P297L|DAB1_uc009vzw.1_Missense_Mutation_p.P365L|DAB1_uc001cys.1_Missense_Mutation_p.P383L	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	416					cell differentiation|nervous system development			p.G382S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGGGGTGAGGGGACCTTGGAA	0.592000														70			31		0	0	0.002445	0	0
PARK2	5071	broad.mit.edu	37	6	162622218	162622218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:162622218C>T	uc021zhu.1	-	4	711	c.620G>A	c.(619-621)gGa>gAa	p.G207E	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Missense_Mutation_p.G160E|PARK2_uc021zhs.1_Missense_Mutation_p.G160E|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.G160E|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Missense_Mutation_p.G81E|PARK2_uc021zhw.1_Intron|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Missense_Mutation_p.G160E|PARK2_uc010kke.1_Missense_Mutation_p.G160E	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	160	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCTGAGTTTTCCCGGCTGCAC	0.483000														56			5		0	0	0.000602	0	0
PXDN	7837	broad.mit.edu	37	2	1687882	1687882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1687882G>A	uc002qxa.3	-	4	522	c.458C>T	c.(457-459)tCg>tTg	p.S153L	PXDN_uc002qxb.1_Missense_Mutation_p.S153L|PXDN_uc002qxc.1_5'UTR	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	153					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGCTGGAACGAATCTGGGTC	0.408000														7			4		0	0	0.000248	0	0
GHSR	2693	broad.mit.edu	37	3	172163170	172163170	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:172163170G>A	uc003fib.2	-	1	925	c.882C>T	c.(880-882)tcC>tcT	p.S294S	FJ355932_uc021xhj.1_5'Flank	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	294					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAATCTCCAAGGAGCCAGGCT	0.493000														56			27		0	0	0.004656	0	0
CES5A	221223	broad.mit.edu	37	16	55903644	55903644	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55903644A>G	uc021tir.1	-	4	663	c.517T>C	c.(517-519)Ttc>Ctc	p.F173L	CES5A_uc002eip.2_Missense_Mutation_p.F144L|CES5A_uc002eio.2_Missense_Mutation_p.F144L|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Missense_Mutation_p.F38L	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	144						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCTCCTGGGAACCACACCAAG	0.592000														6			5		0	0	0.000602	0	0
TEX15	56154	broad.mit.edu	37	8	30703646	30703646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:30703646C>T	uc003xil.3	-	0	2888	c.2888G>A	c.(2887-2889)cGa>cAa	p.R963Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	963										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTTTTAATTCGTCCTTGGGA	0.343000														98			40		0	0	0.006230	0	0
PLXDC2	84898	broad.mit.edu	37	10	20465933	20465933	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:20465933C>T	uc001iqg.1	+	7	1526	c.889C>T	c.(889-891)Cga>Tga	p.R297*	PLXDC2_uc001iqh.1_Nonsense_Mutation_p.R248*|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	297						integral to membrane		p.R297G(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTAGATGTTCGAAGAAGAAC	0.323000														100			43		0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189875511	189875511	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:189875511T>C	uc002uqj.1	+	49	4266	c.4149T>C	c.(4147-4149)agT>agC	p.S1383S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1383	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATCAGGCCAGTGGAAATGTAA	0.453000														25			12		0	0	0.000978	0	0
C10orf12	26148	broad.mit.edu	37	10	98744512	98744512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:98744512C>T	uc001kmv.3	+	0	3472	c.3365C>T	c.(3364-3366)cCt>cTt	p.P1122L		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	1122										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCAAAACCCCTGCTGCCAAG	0.522000														34			18		0	0	0.008871	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121280	38121280	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38121280G>A	uc003atr.3	+	6	2988	c.2717G>A	c.(2716-2718)tGg>tAg	p.W906*	TRIOBP_uc003atu.3_Nonsense_Mutation_p.W734*|TRIOBP_uc003atq.1_Nonsense_Mutation_p.W906*|TRIOBP_uc003ats.1_Nonsense_Mutation_p.W734*	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	906					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACATCCCCTGGGCCTCGTTT	0.562000														119			68		0	0	0.003610	0	0
CCDC42	146849	broad.mit.edu	37	17	8638875	8638875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:8638875G>A	uc002gln.3	-	4	774	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	CCDC42_uc002glo.3_Intron	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	183				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						ATGAGGTCGTGGCGCATGCTC	0.607000														15			19		0	0	0.006122	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102484839	102484839	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:102484839C>T	uc001yks.2	+	40	8393	c.8229C>T	c.(8227-8229)tcC>tcT	p.S2743S	DYNC1H1_uc001ykt.1_Silent_p.S234S	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2743	AAA 3 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCCCGCCTCCCTCACACAGA	0.637000														25			12		0	0	0.001368	0	0
OR2T8	343172	broad.mit.edu	37	1	248085233	248085233	+	Missense_Mutation	SNP	G	A	A	rs145320774		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248085233G>A	uc010pzc.2	+	0	914	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	305			R -> W (in dbSNP:rs6695357).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTATGGGTCGGTGTGTGGCC	0.428000														85			37		0	0	0.006230	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296611	28296611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:28296611G>A	uc002ymg.3	-	7	3283	c.2554C>T	c.(2554-2556)Ccc>Tcc	p.P852S		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	852	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GACTTCTTGGGAACAAAAAAG	0.483000														84			49		0	0	0.003610	0	0
PPIG	9360	broad.mit.edu	37	2	170460737	170460737	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:170460737C>T	uc002uez.3	+	3	322	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PPIG_uc010fpx.3_Silent_p.P34P|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Silent_p.P34P|PPIG_uc002ufb.3_Silent_p.P34P|PPIG_uc002ufc.1_Silent_p.P34P|PPIG_uc002ufd.3_Silent_p.P34P	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	34	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATGTGTGCCCCAAAACATGCG	0.363000														82			25		0	0	0.004656	0	0
C1orf173	127254	broad.mit.edu	37	1	75038379	75038379	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:75038379C>T	uc001dgg.3	-	13	3234	c.3015G>A	c.(3013-3015)cgG>cgA	p.R1005R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1005	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACCTGCATCCGGCTTGCCT	0.542000														59			22		0	0	0.001882	0	0
OR2C3	81472	broad.mit.edu	37	1	247695697	247695697	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247695697C>T	uc021pmb.1	-	0	117	c.117G>A	c.(115-117)tcG>tcA	p.S39S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.S39S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S38L(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TGCCCAAGATCGATACCATGT	0.473000														75			25		0	0	0.005443	0	0
GPR98	84059	broad.mit.edu	37	5	89948267	89948267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:89948267G>A	uc003kju.3	+	18	3617	c.3521G>A	c.(3520-3522)gGa>gAa	p.G1174E	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1174	Calx-beta 9.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAACTTCAGGAACTGTTAAC	0.388000														47			35		0	0	0.002836	0	0
GRHL3	57822	broad.mit.edu	37	1	24658072	24658072	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:24658072G>A	uc021oiw.1	+	1	404	c.174G>A	c.(172-174)gcG>gcA	p.A58A	GRHL3_uc001bix.3_Silent_p.A58A|GRHL3_uc021oix.1_Silent_p.A12A|GRHL3_uc001biy.3_Silent_p.A63A|GRHL3_uc001biz.3_Intron	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	58	Transcription activation.				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAGTGTTGCGGCCTTGAGCT	0.512000														49			27		0	0	0.001786	0	0
MGLL	11343	broad.mit.edu	37	3	127540652	127540652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:127540652C>T	uc003ejx.3	-	1	155	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	MGLL_uc003ejw.3_Missense_Mutation_p.E14K|MGLL_uc011bko.2_Missense_Mutation_p.E14K|MGLL_uc010hsp.1_Missense_Mutation_p.E4K	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	4					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GGGGAACTTTCCTCTGGCATG	0.507000														108			41		0	0	0.003610	0	0
LRRC55	219527	broad.mit.edu	37	11	56949692	56949692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56949692G>A	uc001njl.2	+	0	472	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	79						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCTGCCAATGGACACCCGAAA	0.607000														20			15		0	0	0.002450	0	0
NTN3	4917	broad.mit.edu	37	16	2522890	2522890	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2522890G>A	uc002cqj.3	+	2	1320	c.1117_splice	c.e2+1	p.A373_splice	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	373					axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCTTGCAGGGGTGAGCCACC	0.677000														9			10		0	0	0.006214	0	0
FBN1	2200	broad.mit.edu	37	15	48788334	48788334	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:48788334C>T	uc001zwx.2	-	19	2777	c.2382G>A	c.(2380-2382)aaG>aaA	p.K794K		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	794	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGATAAATCCCTTGGGGCAGG	0.353000														55			14		0	0	0.001855	0	0
OR4A47	403253	broad.mit.edu	37	11	48510659	48510659	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48510659C>T	uc010rhx.2	+	0	315	c.315C>T	c.(313-315)ttC>ttT	p.F105F		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGCACATTTTCGGTGGGTCAG	0.453000														78			21		0	0	0.003954	0	0
PNMA5	114824	broad.mit.edu	37	X	152159204	152159204	+	Silent	SNP	C	T	T	rs144825466	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:152159204C>T	uc022chn.1	-	0	939	c.939G>A	c.(937-939)ggG>ggA	p.G313G	PNMA5_uc010ntx.3_Silent_p.G313G|PNMA5_uc010ntw.3_Silent_p.G313G|PNMA5_uc004fgy.4_Silent_p.G313G|PNMA5_uc022chm.1_Silent_p.G313G	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGAGGACACCCTCGCTGAT	0.527000														12			27		0	0	0.004656	0	0
MUC16	94025	broad.mit.edu	37	19	9058382	9058382	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9058382C>T	uc002mkp.3	-	2	29268	c.29064G>A	c.(29062-29064)ggG>ggA	p.G9688G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9690	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAGTGGGTCCCTGACAAAA	0.493000														72			16		0	0	0.004007	0	0
OR51G2	81282	broad.mit.edu	37	11	4936436	4936436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4936436G>A	uc001lzr.1	-	0	458	c.458C>T	c.(457-459)tCt>tTt	p.S153F		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 2 (OR51G2), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGACCCAGAGAGACCAGGCC	0.473000														22			13		0	0	0.001368	0	0
CYP4F3	4051	broad.mit.edu	37	19	15760825	15760825	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:15760825C>T	uc010xok.2	+	6	800	c.750C>T	c.(748-750)acC>acT	p.T250T	CYP4F3_uc010xol.2_Silent_p.T250T|CYP4F3_uc002nbj.3_Silent_p.T250T|CYP4F3_uc010xom.2_Silent_p.T101T|CYP4F3_uc002nbk.3_Silent_p.T250T|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	250					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ATTATCTCACCCCTGATGGGC	0.577000														132			72		0	0	0.003610	0	0
LRFN5	145581	broad.mit.edu	37	14	42356660	42356660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:42356660C>T	uc001wvm.3	+	2	2030	c.832C>T	c.(832-834)Cct>Tct	p.P278S	LRFN5_uc010ana.3_Missense_Mutation_p.P278S	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	278	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGTCAATTCCTGAAGAAGA	0.473000										HNSCC(30;0.082)				77			39		0	0	0.004289	0	0
ZNF32	7580	broad.mit.edu	37	10	44140198	44140198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:44140198G>A	uc001jbb.3	-	2	311	c.122C>T	c.(121-123)tCc>tTc	p.S41F	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.S41F	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		CCAGCTTGAGGATCCTGTAGC	0.428000														84			34		0	0	0.004878	0	0
ACSF3	197322	broad.mit.edu	37	16	89167169	89167169	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89167169G>A	uc010cig.2	+	1	288	c.80G>A	c.(79-81)aGa>aAa	p.R27K	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Missense_Mutation_p.R27K|ACSF3_uc021tmq.1_Missense_Mutation_p.R27K|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	27					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCGAGACACAGAGGAAGTGGT	0.687000														29			21		0	0	0.002299	0	0
OR4A47	403253	broad.mit.edu	37	11	48511189	48511190	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:48511189_48511190CC>AT	uc010rhx.2	+	0	845_846	c.845_846CC>AT	c.(844-846)ccc>cAT	p.P282H		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATGCTGAACCCCTTAATCTACA	0.406000														90			55		0	0	0.004672	0	0
REN	5972	broad.mit.edu	37	1	204135391	204135392	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204135391_204135392CC>TT	uc001haq.2	-	0	74_75	c.30_31GG>AA	c.(28-33)tgggga>tgAAga	p.10_11WG>*R		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	10					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AGCAGCAGTCCCCAGCGAGGCA	0.564000														67			13		0	0	0.004672	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92663851	92663851	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:92663851A>T	uc002bqx.2	+	4	1367	c.1166A>T	c.(1165-1167)cAg>cTg	p.Q389L	SLCO3A1_uc002bqy.2_Missense_Mutation_p.Q389L|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.Q331L	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	389					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCTGCCAACCAGCTGCTTGGT	0.572000														119			47		0	0	0.003214	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	A	A	rs11554290		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				107			60		0	0	0.003610	0	0
RNF40	9810	broad.mit.edu	37	16	30776312	30776312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:30776312C>T	uc002dzq.3	+	5	1523	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.R235C|RNF40_uc010cab.3_Missense_Mutation_p.R235C|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.R235C	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647000														32			13		0	0	0.001855	0	0
FZD7	8324	broad.mit.edu	37	2	202899380	202899381	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:202899380_202899381CC>AT	uc002uyw.1	+	0	71_72	c.10_11CC>AT	c.(10-12)ccc>ATc	p.P4I		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	4					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GATGCGGGACCCCGGCGCGGCC	0.767000														41			25		0	0	0.004672	0	0
HRNR	388697	broad.mit.edu	37	1	152192312	152192312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152192312C>T	uc001ezt.1	-	2	1869	c.1793G>A	c.(1792-1794)gGt>gAt	p.G598D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	598					keratinization		calcium ion binding|protein binding	p.G598C(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCGTGTTGACCGTAGCCAGA	0.557000														353			123		0	0	0.003610	0	0
DTX3	196403	broad.mit.edu	37	12	58000659	58000659	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:58000659C>T	uc001sow.1	+	4	350	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	DTX3_uc001sov.1_Intron|DTX3_uc001sox.1_Intron|DTX3_uc001soy.1_5'UTR	NM_178502	NP_848597	Q8N9I9	DTX3_HUMAN	Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA.	5					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					GTCGTTCGTCCTGTCCAGAAT	0.587000														53			67		0	0	0.003610	0	0
RBP3	5949	broad.mit.edu	37	10	48388744	48388744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:48388744C>T	uc001jez.3	-	0	2248	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	712	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E711K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGTGCTTCCTCTACCACC	0.627000														54			20		0	0	0.001523	0	0
FSTL5	56884	broad.mit.edu	37	4	162463792	162463792	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:162463792T>C	uc003iqh.3	-	8	1505	c.1069A>G	c.(1069-1071)Act>Gct	p.T357A	FSTL5_uc003iqi.3_Missense_Mutation_p.T356A|FSTL5_uc010iqv.3_Missense_Mutation_p.T356A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	357	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGACTGGCAGTTACCCCAGGC	0.443000														65			32		0	0	0.004289	0	0
PIPSL	266971	broad.mit.edu	37	10	95719344	95719344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95719344C>T	uc009xuj.2	-	0	2329	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TTCTCATTGTCCTCCACCGGG	0.473000														17			4		0	0	0.000248	0	0
TMC5	79838	broad.mit.edu	37	16	19451967	19451967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:19451967G>A	uc002dgc.4	+	2	1356	c.607G>A	c.(607-609)Gga>Aga	p.G203R	TMC5_uc010vaq.2_Missense_Mutation_p.G203R|TMC5_uc002dgb.4_Missense_Mutation_p.G203R|TMC5_uc010var.2_Missense_Mutation_p.G203R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	203						integral to membrane		p.G203*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGACTCTCTGGGAAAGCCTGA	0.473000														47			32		0	0	0.001786	0	0
ANKRD36	375248	broad.mit.edu	37	2	97860484	97860484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:97860484C>T	uc010yva.2	+	38	2715	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Non-coding_Transcript|ANKRD36_uc002sxq.2_Intron	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	824										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AAAAAACCAGCCTTGAAGGTA	0.338000														16			5		0	0	0.004482	0	0
C7orf45	136263	broad.mit.edu	37	7	129856133	129856133	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:129856133G>A	uc003vpp.3	+	2	605	c.558G>A	c.(556-558)agG>agA	p.R186R		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	186						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					AGAGGCAAAGGAATCTGGGAA	0.498000														87			37		0	0	0.004878	0	0
SSX2IP	117178	broad.mit.edu	37	1	85127991	85127991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:85127991C>T	uc001dki.3	-	8	1143	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	SSX2IP_uc001dkf.3_Missense_Mutation_p.E246K|SSX2IP_uc001dkh.3_Missense_Mutation_p.E273K|SSX2IP_uc010orz.2_Missense_Mutation_p.E246K|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.E246K|SSX2IP_uc001dkj.3_Missense_Mutation_p.E273K|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.E269K	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	273					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCTGCATTTTCCATTAGGATT	0.323000														74			41		0	0	0.006230	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107449109	107449109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:107449109G>A	uc002tdq.3	-	3	1174	c.1055C>T	c.(1054-1056)cCc>cTc	p.P352L	ST6GAL2_uc002tdr.3_Missense_Mutation_p.P352L|ST6GAL2_uc002tds.3_Missense_Mutation_p.P352L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	352					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGATGGCTGGGGTTGGTCAG	0.398000														52			37		0	0	0.004289	0	0
NDST4	64579	broad.mit.edu	37	4	115858593	115858593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:115858593G>A	uc003ibu.3	-	4	1967	c.1288C>T	c.(1288-1290)Cac>Tac	p.H430Y	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	430	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGCTGAATGTGAACCGGGTAG	0.488000														62			34		0	0	0.003271	0	0
SLC22A9	114571	broad.mit.edu	37	11	63137845	63137845	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:63137845C>T	uc001nww.3	+	0	585	c.317C>T	c.(316-318)cCc>cTc	p.P106L	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	106					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						GGGACCTTCCCCAACACAAGT	0.522000														56			27		0	0	0.008361	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48556362	48556362	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48556362A>G	uc010xzd.2	-	15	1839	c.1502T>C	c.(1501-1503)cTt>cCt	p.L501P	PLA2G4C_uc002phw.3_Missense_Mutation_p.L426P|PLA2G4C_uc010elr.3_Missense_Mutation_p.L491P|PLA2G4C_uc002phx.3_Missense_Mutation_p.L491P	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	491	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GGTGTCAGCAAGCTTGAATGT	0.418000														22			31		0	0	0.002445	0	0
SLIT2	9353	broad.mit.edu	37	4	20620617	20620617	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:20620617G>A	uc003gpr.1	+	36	4779	c.4575G>A	c.(4573-4575)acG>acA	p.T1525T	SLIT2_uc003gps.1_Silent_p.T1517T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1525	CTCK.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCGGCTGTACGAGGTGTGTGT	0.502000														58			22		0	0	0.002780	0	0
POF1B	79983	broad.mit.edu	37	X	84622755	84622755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:84622755G>A	uc004eer.2	-	2	445	c.299C>T	c.(298-300)aCt>aTt	p.T100I	POF1B_uc004ees.3_Missense_Mutation_p.T100I	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	100							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TATTTTTAAAGTTGGAGAATG	0.289000														10			26		0	0	0.004656	0	0
COL9A1	1297	broad.mit.edu	37	6	71010049	71010049	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:71010049G>A	uc003pfg.4	-	2	288	c.129C>T	c.(127-129)ctC>ctT	p.L43L		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	43	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTTTGGACAGAGTTCATTTC	0.343000														65			24		0	0	0.006320	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240802	60240802	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:60240802C>T	uc001vht.3	-	27	3717	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	DIAPH3_uc001vhs.3_Non-coding_Transcript	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1166					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTTCCGTTTCCTTTTTTCTGT	0.398000														59			42		0	0	0.008740	0	0
DDX55	57696	broad.mit.edu	37	12	124090489	124090489	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:124090489C>T	uc001ufi.3	+	1	144	c.120C>T	c.(118-120)atC>atT	p.I40I	DDX55_uc001ufh.3_5'UTR|DDX55_uc001ufj.1_5'UTR|DDX55_uc001ufk.3_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	40	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCGCAACCATCCCTCTGTTCA	0.507000														43			37		0	0	0.008740	0	0
ZNF626	199777	broad.mit.edu	37	19	20807665	20807665	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20807665G>A	uc002npb.1	-	3	1168	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	ZNF626_uc002npc.1_Missense_Mutation_p.P264S	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTGTAGGGTTTGTCTTCA	0.368000														55			29		0	0	0.006320	0	0
VDAC2	7417	broad.mit.edu	37	10	76972009	76972009	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:76972009A>G	uc001jxa.3	+	3	653	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	VDAC2_uc021ptp.1_Missense_Mutation_p.Y18C|VDAC2_uc010qld.2_5'UTR|VDAC2_uc001jwz.3_Missense_Mutation_p.Y18C|VDAC2_uc010qle.2_5'UTR	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CCTCCATCATATGCTGACCTT	0.368000														40			26		0	0	0.002445	0	0
FAM5C	339479	broad.mit.edu	37	1	190067177	190067177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:190067177C>T	uc001gse.1	-	7	2504	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	FAM5C_uc010pot.1_Missense_Mutation_p.D656N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	758						extracellular region		p.D758H(4)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GTGTCATAATCCATTGTGTTT	0.403000														138			34		0	0	0.004878	0	0
PLCB4	5332	broad.mit.edu	37	20	9438076	9438076	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:9438076C>T	uc021wam.1	+	29	2991	c.2976C>T	c.(2974-2976)ctC>ctT	p.L992L	PLCB4_uc010gbw.1_Silent_p.L992L|PLCB4_uc010gbx.3_Silent_p.L1004L|PLCB4_uc021wal.1_Silent_p.L992L|PLCB4_uc002wnh.3_Silent_p.L839L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	992					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GTAATTGTCTCGAAATGAAAA	0.368000														52			23		0	0	0.002780	0	0
FMNL3	91010	broad.mit.edu	37	12	50050217	50050217	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:50050217G>A	uc001ruv.1	-	8	1089	c.855C>T	c.(853-855)atC>atT	p.I285I	FMNL3_uc001ruw.1_Silent_p.I234I|FMNL3_uc001ruu.1_Silent_p.I135I	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	285	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGCAAGGATGATTTCGTGAC	0.507000														25			11		0	0	0.001368	0	0
CYP2C9	1559	broad.mit.edu	37	10	96745844	96745844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:96745844C>T	uc001kka.4	+	7	1229	c.1204C>T	c.(1204-1206)Ccc>Tcc	p.P402S	CYP2C9_uc009xut.3_Missense_Mutation_p.P400S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	402					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.P402S(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CAAAGAATTTCCCAACCCAGA	0.378000														59			29		0	0	0.007291	0	0
OR4E2	26686	broad.mit.edu	37	14	22133614	22133614	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:22133614C>T	uc010tmd.2	+	0	318	c.318C>T	c.(316-318)ctC>ctT	p.L106L		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCCTACATCTCTTTGCCTGTG	0.458000														180			67		0	0	0.003610	0	0
BCMO1	53630	broad.mit.edu	37	16	81298334	81298334	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81298334C>T	uc002fgn.1	+	4	779	c.561C>T	c.(559-561)tcC>tcT	p.S187S	BCMO1_uc010vnp.1_Silent_p.S118S	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	187					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGGGCACATCCATTGTGGAAA	0.428000														37			25		0	0	0.003330	0	0
LRBA	987	broad.mit.edu	37	4	151749390	151749390	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:151749390G>A	uc010ipj.3	-	29	5357	c.5113C>T	c.(5113-5115)Ctt>Ttt	p.L1705F	LRBA_uc003ilt.4_Missense_Mutation_p.L364F|LRBA_uc003ilu.4_Missense_Mutation_p.L1705F	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1705						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGGGCTCCAAGGCAGGCTGGT	0.448000														99			46		0	0	0.003610	0	0
NOMO1	23420	broad.mit.edu	37	16	14980667	14980667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:14980667C>T	uc002dcv.3	+	27	3338	c.3272C>T	c.(3271-3273)tCc>tTc	p.S1091F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1091						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CAGACAGTTTCCCTTGGCCAG	0.463000														97			41		0	0	0.003610	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309021	61309021	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61309021G>A	uc002ljf.3	-	3	410	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SERPINB3_uc002lje.3_Silent_p.F108F|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	108					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCTTTTCTCCGAAGAGCTTGT	0.413000														106			51		0	0	0.003610	0	0
LAMP5	24141	broad.mit.edu	37	20	9510436	9510436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:9510436G>A	uc002wni.2	+	5	1307	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	LAMP5_uc010zrc.2_Missense_Mutation_p.R227Q	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	271						integral to membrane											CAGATCCCTCGGGACAGATCC	0.537000														58			30		0	0	0.001786	0	0
IFNB1	3456	broad.mit.edu	37	9	21077649	21077649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:21077649C>T	uc003zok.3	-	0	295	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	74					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GCGGCGTCCTCCTTCTGGAAC	0.468000														27			33		0	0	0.002096	0	0
XIRP2	129446	broad.mit.edu	37	2	168102404	168102404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:168102404C>T	uc002udx.3	+	8	4591	c.4502C>T	c.(4501-4503)tCt>tTt	p.S1501F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S1326F|XIRP2_uc010fpq.3_Missense_Mutation_p.S1279F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1326					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTTTCGATTCTATTATGGAA	0.388000														52			29		0	0	0.006320	0	0
POTEM	641455	broad.mit.edu	37	14	20019999	20019999	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20019999C>T	uc001vwc.3	-	0	274	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	74								p.R73S(1)		endometrium(4)|kidney(1)|lung(4)	9						TCTTGCCGCTCCCCCTGCACC	0.587000														568			43		0	0	0.003610	0	0
TCHH	7062	broad.mit.edu	37	1	152081397	152081397	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152081397G>A	uc009wne.1	-	2	4568	c.4296C>T	c.(4294-4296)ttC>ttT	p.F1432F	TCHH_uc001ezp.2_Silent_p.F1432F	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1432	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.F1432I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTTCACGGAATTTTCTGT	0.592000											OREG0031687	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)		152			45		0	0	0.002852	0	0
OR11L1	391189	broad.mit.edu	37	1	248005015	248005015	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248005015A>G	uc001idn.1	-	0	184	c.184T>C	c.(184-186)Ttc>Ctc	p.F62L		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTGGAGGAACATGTACATA	0.547000														35			10		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106363881	106363881	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:106363881C>T	uc021ser.1	-	3669		c.56167_splice	c.e3669-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		TCCTCCTGTCCCTACTGGTGT	0.537000														9			8		0	0	0.006214	0	0
PDE6B	5158	broad.mit.edu	37	4	657610	657610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:657610C>T	uc003gap.3	+	15	2025	c.1972C>T	c.(1972-1974)Cac>Tac	p.H658Y	PDE6B_uc003gao.4_Missense_Mutation_p.H658Y|PDE6B_uc011buy.2_Missense_Mutation_p.H379Y|PDE6B_uc011buz.2_Missense_Mutation_p.H90Y	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	658					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCACGTGATCCACCTGATGGA	0.682000														16			8		0	0	0.006214	0	0
EIF2D	1939	broad.mit.edu	37	1	206769134	206769134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206769134G>A	uc001heh.2	-	12	1651	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	EIF2D_uc009xbw.2_Missense_Mutation_p.P357L	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	481					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CTTCACAATGGGCTCTTGTCC	0.408000														141			40		0	0	0.006999	0	0
ABR	29	broad.mit.edu	37	17	912972	912972	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:912972G>A	uc002fsd.3	-	20	2399	c.2289C>T	c.(2287-2289)tcC>tcT	p.S763S	ABR_uc002fse.3_Silent_p.S717S|ABR_uc010vqf.2_Silent_p.S214S|ABR_uc010vqg.2_Silent_p.S545S|ABR_uc002fsg.3_Silent_p.S726S|ABR_uc002fsf.3_Silent_p.S300S	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	763	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGTCGGGCAGGGAGCGGAGCA	0.622000														26			34		0	0	0.002522	0	0
USH2A	7399	broad.mit.edu	37	1	216256809	216256809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216256809C>T	uc001hku.1	-	25	5674	c.5287G>A	c.(5287-5289)Gat>Aat	p.D1763N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1763	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1763H(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCAAGAAAATCAGGTCCATCT	0.284000										HNSCC(13;0.011)				117			31		0	0	0.003271	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102489128	102489128	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:102489128A>G	uc001yks.2	+	42	8712	c.8548A>G	c.(8548-8550)Atc>Gtc	p.I2850V	DYNC1H1_uc001ykt.1_Missense_Mutation_p.I341V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2850					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGATGAGAACATCGACACGGT	0.517000														68			37		0	0	0.005524	0	0
WDR33	55339	broad.mit.edu	37	2	128471308	128471308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:128471308G>A	uc002tpg.2	-	17	3356	c.3157C>T	c.(3157-3159)Ccg>Tcg	p.P1053S		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1053					postreplication repair|spermatogenesis	collagen|nucleus	protein binding	p.P1053P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGGGGAAACGGAGGCCCAGGG	0.662000														73			30		0	0	0.002096	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378687	31378687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:31378687C>T	uc003tch.3	-	1	549	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	NEUROD6_uc022abi.1_Missense_Mutation_p.E66K	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	66					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						tcttcctcttccctgtcttcc	0.468000														89			44		0	0	0.002222	0	0
OR10K2	391107	broad.mit.edu	37	1	158389728	158389728	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158389728G>A	uc010pii.2	-	0	929	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S310F(2)|p.S310S(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TTACAACAGGGAAATTGTTCT	0.388000														52			15		0	0	0.003163	0	0
CCDC155	147872	broad.mit.edu	37	19	49920433	49920433	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:49920433T>C	uc002pnm.2	+	18	1662	c.1457T>C	c.(1456-1458)cTc>cCc	p.L486P	CCDC155_uc010emx.2_Missense_Mutation_p.L457P	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	486						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CGGCGGGAACTCCAGCAAGCC	0.642000														8			15		0	0	0.004990	0	0
CLEC5A	23601	broad.mit.edu	37	7	141635652	141635652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:141635652C>T	uc003vwv.1	-	4	504	c.307G>A	c.(307-309)Gga>Aga	p.G103R	CLEC5A_uc011krm.1_Missense_Mutation_p.G80R|CLEC5A_uc003vww.1_Missense_Mutation_p.G103R|CLEC5A_uc010lnq.1_Missense_Mutation_p.G80R|CLEC5A_uc010lnr.1_Intron	NM_013252	NP_037384	Q9NY25	CLC5A_HUMAN	Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA.	103	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.K102K(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AATGTGGATCCTTTTCCTTTG	0.448000														74			45		0	0	0.003610	0	0
CDH18	1016	broad.mit.edu	37	5	19544036	19544036	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:19544036C>T	uc003jgd.3	-	8	1866	c.1332G>A	c.(1330-1332)aaG>aaA	p.K444K	CDH18_uc011cnm.2_Silent_p.K444K|CDH18_uc003jgc.3_Silent_p.K444K|CDH18_uc021xwu.1_Silent_p.K444K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	444	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGTCGAGAACCTTTGTAGTCC	0.363000														46			24		0	0	0.002299	0	0
ALDH1A1	216	broad.mit.edu	37	9	75531873	75531873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:75531873C>T	uc004ajd.3	-	8	1315	c.998G>A	c.(997-999)gGa>gAa	p.G333E	ALDH1A1_uc011lsh.2_Missense_Mutation_p.G254E|ALDH1A1_uc011lsg.2_Missense_Mutation_p.G159E	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	333					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CAGAGGATTTCCAAGGATATA	0.433000														31			28		0	0	0.002096	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002792	52002792	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:52002792G>A	uc002pwx.1	-	2	1043	c.987C>T	c.(985-987)ctC>ctT	p.L329L	SIGLEC12_uc002pww.1_Silent_p.L211L|SIGLEC12_uc010eoy.1_Silent_p.L56L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	329	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCTGTGGGATGAGGCTGAGCA	0.652000														21			18		0	0	0.007413	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058891	152058891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152058891C>T	uc001ezo.1	-	2	1332	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	423							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TACTTCCCATCCTGTGTTTGG	0.458000														165			50		0	0	0.003610	0	0
PENK	5179	broad.mit.edu	37	8	57353941	57353941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:57353941C>T	uc003xsz.2	-	1	775	c.694G>A	c.(694-696)Ggt>Agt	p.G232S	PENK_uc003xta.3_Missense_Mutation_p.G232S	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	232					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTCAGGAAACCTCCATACCGT	0.498000														76			39		0	0	0.007835	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089203	220089203	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:220089203A>T	uc001hlw.3	-	3	1257	c.1046T>A	c.(1045-1047)cTg>cAg	p.L349Q	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.L104Q|SLC30A10_uc001hlx.3_Missense_Mutation_p.L124Q	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	349					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CTTGATGTGCAGGGTGGCAAT	0.438000														151			49		0	0	0.003610	0	0
ABCC3	8714	broad.mit.edu	37	17	48738380	48738380	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:48738380G>A	uc002isl.3	+	7	983	c.903G>A	c.(901-903)aaG>aaA	p.K301K	ABCC3_uc002isk.4_Silent_p.K301K|ABCC3_uc002ism.3_5'Flank	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	301					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTTCCTGAAGGCCCTGCTGG	0.622000														22			7		0	0	0.001984	0	0
SNTG2	54221	broad.mit.edu	37	2	1263181	1263181	+	Missense_Mutation	SNP	C	T	T	rs145354756	by1000genomes	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:1263181C>T	uc002qwq.3	+	12	1174	c.1045C>T	c.(1045-1047)Cac>Tac	p.H349Y	SNTG2_uc010ewi.3_Missense_Mutation_p.H222Y	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	349	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding	p.H349Y(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AAGGACCTATCACCTCTGTGA	0.413000														52			27		0	0	0.005443	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147869354	147869354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:147869354G>A	uc003weu.2	+	17	3310	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	932	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCCAGCAGGGCTTCCTGGG	0.522000										HNSCC(39;0.1)				52			32		0	0	0.002096	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:143767740G>A	uc001ejt.3	-	0	142	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000														357			13		0	0	0.007413	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:175331865C>T	uc001gkp.1	-	11	2869	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_uc009wwu.1_Missense_Mutation_p.E930K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(4)|p.Y929Y(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000														93			39		0	0	0.004289	0	0
UNCX	340260	broad.mit.edu	37	7	1273286	1273286	+	Silent	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:1273286C>G	uc011jvw.2	+	1	405	c.405C>G	c.(403-405)cgC>cgG	p.R135R		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	Homo sapiens UNC homeobox (UNCX), mRNA.	135					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R135L(1)		lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGTTCATGCGCGAGGCGCTGG	0.677000														50			22		0	0	0.003330	0	0
SMURF1	57154	broad.mit.edu	37	7	98652473	98652473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:98652473C>T	uc003upu.2	-	5	759	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SMURF1_uc003upv.2_Missense_Mutation_p.R140Q|SMURF1_uc003upt.3_Missense_Mutation_p.R140Q	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	140					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	I-SMAD binding|R-SMAD binding|activin binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TATTCTGTCTCGTGTCTGTAA	0.438000														110			69		0	0	0.003610	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204597	43204597	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:43204597C>T	uc002lbe.3	+	2	783	c.-33_splice	c.e2-1		SLC14A2_uc002lbb.3_Splice_Site|SLC14A2_uc010dnj.3_Splice_Site	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCGTCTAGTCCATCGATAGA	0.577000														46			10		0	0	0.000978	0	0
FILIP1	27145	broad.mit.edu	37	6	76022716	76022716	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:76022716G>A	uc010kbe.3	-	5	3371	c.2841C>T	c.(2839-2841)acC>acT	p.T947T	FILIP1_uc003phy.1_Silent_p.T944T|FILIP1_uc003phz.3_Silent_p.T845T|FILIP1_uc003pia.3_Silent_p.T944T|FILIP1_uc003pib.1_Silent_p.T696T	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	944										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATTCCCTAAGGTAGGAATGA	0.423000														105			46		0	0	0.003610	0	0
OR1J4	26219	broad.mit.edu	37	9	125282026	125282026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125282026G>A	uc011lyw.2	+	0	607	c.607G>A	c.(607-609)Gga>Aga	p.G203R		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TTTCACAGTGGGACAGGCAGT	0.473000														24			22		0	0	0.001882	0	0
OR1D2	4991	broad.mit.edu	37	17	2995533	2995533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:2995533C>T	uc010vrb.2	-	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	253					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACAAAGTGTCCCATAGAAGAG	0.483000														39			33		0	0	0.003755	0	0
OTOGL	283310	broad.mit.edu	37	12	80632729	80632729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:80632729C>T	uc001szd.3	+	8	895	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTCCAAATCCGTGCTCCAG	0.393000														7			3		0	0	0.004672	0	0
RALYL	138046	broad.mit.edu	37	8	85800011	85800011	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:85800011G>A	uc003yct.4	+	8	1031	c.897_splice	c.e8+1	p.L299_splice	RALYL_uc003ycq.4_Splice_Site_p.L286_splice|RALYL_uc003ycr.4_Splice_Site_p.L286_splice|RALYL_uc003ycs.4_Splice_Site_p.L286_splice|RALYL_uc010lzy.3_Splice_Site_p.L275_splice|RALYL_uc003ycu.4_Splice_Site_p.L213_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	286							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCATGAGCTGGTAGGAAAGA	0.448000														81			33		0	0	0.002836	0	0
TCR	0	broad.mit.edu	37	14	22740377	22740377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:22740377C>T	uc001wdn.3	+	1	314	c.281C>T	c.(280-282)tCc>tTc	p.S94F	TCRA_uc001wbw.2_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TCR_uc021rpx.1_Non-coding_Transcript					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GCAGCCAAATCCTTCAGTCTC	0.473000														36			20		0	0	0.007413	0	0
TMEM186	25880	broad.mit.edu	37	16	8890250	8890250	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:8890250G>A	uc002cze.3	-	1	235	c.201C>T	c.(199-201)acC>acT	p.T67T	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	67						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGAACCCGAAGGTTCTGATGG	0.517000														69			48		0	0	0.003610	0	0
OR4N2	390429	broad.mit.edu	37	14	20296445	20296445	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20296445C>T	uc010tkv.2	+	0	838	c.838C>T	c.(838-840)Cct>Tct	p.P280S		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGATTTTTCCTTTGTTGAA	0.438000														116			33		0	0	0.002836	0	0
KIAA0317	9870	broad.mit.edu	37	14	75139618	75139618	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75139618G>A	uc001xqb.3	-	10	1843	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	KIAA0317_uc010tut.1_Silent_p.F285F	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	446					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GCTCTCGCTGGAAAAAGTTCA	0.473000														52			36		0	0	0.004289	0	0
EFNA5	1946	broad.mit.edu	37	5	106723429	106723429	+	Silent	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:106723429G>C	uc003kol.3	-	2	744	c.462C>G	c.(460-462)ctC>ctG	p.L154L		NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	154					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CAAAGACTTTGAGCTTTAGAC	0.453000														175			48		0	0	0.003610	0	0
FMO3	2328	broad.mit.edu	37	1	171080040	171080040	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:171080040C>T	uc001ghi.3	+	5	840	c.729C>T	c.(727-729)ctC>ctT	p.L243L	FMO3_uc001ghh.3_Silent_p.L243L|FMO3_uc010pmb.2_Silent_p.L223L|FMO3_uc010pmc.2_Silent_p.L180L	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	243					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAACCTTCCTCAAGAACAATT	0.473000														140			44		0	0	0.003214	0	0
C1orf168	199920	broad.mit.edu	37	1	57257918	57257918	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57257918C>T	uc001cym.4	-	1	974	c.568G>A	c.(568-570)Gga>Aga	p.G190R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.G190R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	190								p.G190E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTCTGGGCTCCTTTTGTTTCC	0.468000														85			30		0	0	0.002445	0	0
SLC6A11	6538	broad.mit.edu	37	3	10916703	10916703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10916703G>A	uc003bvz.3	+	5	848	c.814G>A	c.(814-816)Ggg>Agg	p.G272R		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	272					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		CCTGATACGAGGGGTCACGTT	0.562000														192			59		0	0	0.003610	0	0
HABP4	22927	broad.mit.edu	37	9	99220751	99220751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:99220751C>T	uc010msg.3	+	1	588	c.440C>T	c.(439-441)tCc>tTc	p.S147F	HABP4_uc010msh.3_Missense_Mutation_p.S147F	NM_014282	NP_055097	Q5JVS0	HABP4_HUMAN	Homo sapiens hyaluronan binding protein 4 (HABP4), mRNA.	147					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAGCGGAGATCCTACAGGGAA	0.567000														29			30		0	0	0.008361	0	0
EBF1	1879	broad.mit.edu	37	5	158140034	158140034	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:158140034G>A	uc010jip.3	-	12	1615	c.1313C>T	c.(1312-1314)tCg>tTg	p.S438L	EBF1_uc011ddw.2_Missense_Mutation_p.S306L|EBF1_uc011ddx.2_Missense_Mutation_p.S439L|EBF1_uc003lxl.4_Missense_Mutation_p.S407L	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	438					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCACTGAACGAATTCACGCC	0.577000			T	HMGA2	lipoma									25			27		0	0	0.006320	0	0
COL11A2	1302	broad.mit.edu	37	6	33133762	33133762	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33133762C>T	uc003ocx.1	-	62	4657	c.4429_splice	c.e62-1	p.G1477_splice	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Splice_Site_p.G1391_splice|COL11A2_uc003ocz.1_Splice_Site_p.G1370_splice	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1477	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGCCTGGGCCCTGACAAGGAA	0.597000														57			10		0	0	0.008291	0	0
PRRC2A	7916	broad.mit.edu	37	6	31603424	31603424	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31603424C>T	uc003nvb.4	+	23	5688	c.5439C>T	c.(5437-5439)tcC>tcT	p.S1813S	PRRC2A_uc003nvc.4_Silent_p.S1813S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1813						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGCCACAATCCAAGAACCTGG	0.597000														40			39		0	0	0.005524	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756999	56756999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:56756999G>A	uc010rjp.2	+	0	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTCTTTGTGGGATCTAACTTG	0.408000														88			63		0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103338393	103338393	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:103338393G>A	uc022ajr.1	-	9	1210	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RELN_uc022ajq.1_Silent_p.I350I|RELN_uc010liz.3_Silent_p.I350I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	350					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGAATTGATGATCAAGATGT	0.463000														75			35		0	0	0.003755	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538865	23538865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:23538865C>T	uc011kzx.2	-	1	622	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	192					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GAGTGCTTCTCCAAGTCTCCC	0.537000														63			37		0	0	0.006230	0	0
YLPM1	56252	broad.mit.edu	37	14	75248989	75248989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75248989C>T	uc001xqj.4	+	3	2367	c.2243C>T	c.(2242-2244)cCt>cTt	p.P748L	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTCCAGATCCTCCTAGAAGT	0.448000														71			33		0	0	0.005524	0	0
DCHS2	54798	broad.mit.edu	37	4	155219741	155219741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:155219741C>T	uc003inw.2	-	17	4360	c.4360G>A	c.(4360-4362)Gga>Aga	p.G1454R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1454	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGTGGATCTCCCAGGTCAGAG	0.453000														79			32		0	0	0.002096	0	0
RASEF	158158	broad.mit.edu	37	9	85640755	85640755	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:85640755C>T	uc004amo.1	-	1	774	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	171					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGATGAAGTTCTTTATAACAT	0.388000														47			28		0	0	0.002096	0	0
FAM133A	286499	broad.mit.edu	37	X	92964506	92964506	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:92964506A>T	uc022bzw.1	+	2	525	c.88A>T	c.(88-90)Atc>Ttc	p.I30F	FAM133A_uc022bzu.1_Missense_Mutation_p.I30F|FAM133A_uc004efr.2_Missense_Mutation_p.I30F|FAM133A_uc022bzv.1_Missense_Mutation_p.I30F|FAM133A_uc022bzx.1_Missense_Mutation_p.I30F	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	30										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						GGGCCCAACAATCCAAGATTA	0.423000														8			19		0	0	0.006122	0	0
AK5	26289	broad.mit.edu	37	1	77806142	77806142	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:77806142G>A	uc001dhn.3	+	5	1117	c.780G>A	c.(778-780)caG>caA	p.Q260Q	AK5_uc001dho.3_Silent_p.Q234Q	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	260					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GTGCAGAACAGCAGGGCCGAC	0.463000														71			43		0	0	0.002222	0	0
CD84	8832	broad.mit.edu	37	1	160518106	160518106	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:160518106C>T	uc001fwh.4	-	7	1057	c.978G>A	c.(976-978)ggG>ggA	p.G326G	CD84_uc001fwf.4_Silent_p.G309G|CD84_uc009wtn.3_3'UTR|CD84_uc001fwi.4_Silent_p.G195G|CD84_uc001fwg.4_Silent_p.G320G	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	326					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGCTGGCTTTCCCCATCTGTG	0.498000														42			9		0	0	0.006214	0	0
ARRB1	408	broad.mit.edu	37	11	74994428	74994428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:74994428G>A	uc001owe.2	-	4	481	c.257C>T	c.(256-258)tCg>tTg	p.S86L	ARRB1_uc001owf.2_Missense_Mutation_p.S86L	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	86	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CGGTGGGAACGACTGTACGTT	0.617000														46			20		0	0	0.001882	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806562	6806562	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6806562C>T	uc001mer.2	+	0	315	c.294C>T	c.(292-294)gcC>gcT	p.A98A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGGCTGTGCCCTTCAGATGT	0.532000														65			27		0	0	0.008361	0	0
FAM73A	374986	broad.mit.edu	37	1	78325048	78325048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:78325048C>T	uc010ork.2	+	9	1197	c.1165C>T	c.(1165-1167)Cac>Tac	p.H389Y	FAM73A_uc001dhx.3_Missense_Mutation_p.H389Y|FAM73A_uc010orl.2_Missense_Mutation_p.H351Y|FAM73A_uc001dhy.1_3'UTR	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	389						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TGCCAAACTTCACTGTATTCG	0.408000														59			19		0	0	0.007413	0	0
COLEC12	81035	broad.mit.edu	37	18	357415	357415	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:357415T>G	uc002kkm.3	-	2	381	c.166A>C	c.(166-168)Att>Ctt	p.I56L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	56					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TATCCCAAAATGGCTACTGTG	0.318000														45			24		0	0	0.002780	0	0
ANO4	121601	broad.mit.edu	37	12	101488033	101488033	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:101488033G>A	uc010svm.1	+	18	2274	c.1702_splice	c.e18-1	p.L568_splice	ANO4_uc001thw.2_Splice_Site_p.L533_splice|ANO4_uc001thx.2_Splice_Site_p.L568_splice|ANO4_uc001thy.2_Splice_Site_p.L88_splice	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	568						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTATTTTACAGCTCTATGAAA	0.328000										HNSCC(74;0.22)				19			19		0	0	0.002780	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72202110	72202110	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:72202110T>C	uc001xms.3	+	20	5547	c.5186_splice	c.e20+2	p.S1729_splice	SIPA1L1_uc001xmt.3_Splice_Site_p.S1708_splice|SIPA1L1_uc001xmu.3_Splice_Site_p.S1708_splice|SIPA1L1_uc001xmv.3_Splice_Site_p.S1729_splice|SIPA1L1_uc010ttm.2_Splice_Site_p.S1183_splice	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1729					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTACAGCAGGTTGGTCCCAGT	0.547000														49			32		0	0	0.002096	0	0
MAFG	4097	broad.mit.edu	37	17	79880485	79880485	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:79880485G>A	uc002kcm.3	-	2	730	c.485C>T	c.(484-486)tCg>tTg	p.S162L	MAFG_uc002kcn.3_Missense_Mutation_p.S162L	NM_032711	NP_116100	O15525	MAFG_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog G (avian) (MAFG), transcript variant 2, mRNA.	162					blood coagulation	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCGTCCCTACGATCGGGCATC	0.652000														18			8		0	0	0.006214	0	0
ADCYAP1	116	broad.mit.edu	37	18	908329	908329	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:908329G>A	uc010dkg.3	+	3	425	c.306G>A	c.(304-306)ggG>ggA	p.G102G	ADCYAP1_uc010dkh.3_Silent_p.G102G	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	102					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						TGTCCGCCGGGAAGCACCTGC	0.677000														39			20		0	0	0.003330	0	0
CIITA	4261	broad.mit.edu	37	16	11001284	11001284	+	Silent	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:11001284G>T	uc002daj.4	+	10	2071	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	CIITA_uc002dai.4_Silent_p.L645L|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.L645L|CIITA_uc002dah.2_Silent_p.L597L|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	645	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCGGCCTGCTGGGCCGTGCAG	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									27			10		7.48243e-07	1.34804e-06	0.006214	1	0
CYTIP	9595	broad.mit.edu	37	2	158275047	158275047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:158275047G>A	uc002tzj.1	-	6	673	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	CYTIP_uc010zcl.1_Missense_Mutation_p.R95C	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	201					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TGAAGCAGACGATGTTCCTGT	0.318000														103			43		0	0	0.003610	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756337	94756337	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:94756337G>A	uc001yct.3	-	1	1060	c.594C>T	c.(592-594)gcC>gcT	p.A198A	SERPINA10_uc001ycu.4_Silent_p.A198A	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	198					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGCCTGTGAGGCATTGCGAA	0.378000														81			32		0	0	0.003755	0	0
SERPINB3	6317	broad.mit.edu	37	18	61325751	61325751	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:61325751C>T	uc002lji.3	-	4	609	c.465G>A	c.(463-465)acG>acA	p.T155T	SERPINB3_uc002ljg.3_Silent_p.T155T|SERPINB3_uc010dqa.3_Silent_p.T155T|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	155					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T155T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCCTACCATTCGTTTGACTTT	0.448000														37			46		0	0	0.003610	0	0
FAM123C	205147	broad.mit.edu	37	2	131521402	131521402	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:131521402G>A	uc021voy.1	+	0	1757	c.1757G>A	c.(1756-1758)gGa>gAa	p.G586E	FAM123C_uc002trw.2_Missense_Mutation_p.G586E|FAM123C_uc010fmv.2_Missense_Mutation_p.G586E|FAM123C_uc010fms.1_Missense_Mutation_p.G586E|FAM123C_uc010fmt.1_Missense_Mutation_p.G586E|FAM123C_uc010fmu.1_Missense_Mutation_p.G586E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	586										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AAGGCCCTCGGAGGGGCCACA	0.637000														47			22		0	0	0.002299	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32410361	32410361	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:32410361T>C	uc003obh.3	+	1	328	c.219T>C	c.(217-219)ttT>ttC	p.F73F	HLA-DRA_uc003obi.3_Silent_p.F73F	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	73	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity	p.E72*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TTGAAGAATTTGGACGATTTG	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of					134			37		0	0	0.004878	0	0
ADAM28	10863	broad.mit.edu	37	8	24177770	24177770	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24177770C>T	uc003xdy.3	+	6	681	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	ADAM28_uc003xdx.3_Nonsense_Mutation_p.Q200*|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	200					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGGAAGGTTCAGGAACATGA	0.308000														57			24		0	0	0.008361	0	0
SPIRE2	84501	broad.mit.edu	37	16	89924818	89924818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:89924818C>T	uc002foz.1	+	7	1227	c.1175C>T	c.(1174-1176)tCa>tTa	p.S392L	SPIRE2_uc010civ.1_Missense_Mutation_p.S307L|SPIRE2_uc010ciw.1_Missense_Mutation_p.S392L|SPIRE2_uc002fpa.1_Missense_Mutation_p.S344L|SPIRE2_uc010cix.1_Missense_Mutation_p.S259L	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	392					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ATCAACCTGTCAGTCACAGAT	0.637000														91			42		0	0	0.002222	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:135374956C>T	uc004cbn.3	+	3	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_uc004cbo.3_Missense_Mutation_p.P165S	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000														23			19		0	0	0.007413	0	0
COG5	10466	broad.mit.edu	37	7	106871079	106871079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:106871079G>A	uc003vec.2	-	18	2767	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	COG5_uc003ved.2_Missense_Mutation_p.R727W|COG5_uc003vee.2_Missense_Mutation_p.R748W	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	727					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding	p.R748L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CTCAGCATCCGATAGGACTTT	0.368000														140			70		0	0	0.003610	0	0
OR51L1	119682	broad.mit.edu	37	11	5020531	5020531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5020531C>T	uc010qyu.2	+	0	319	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCTTCATCCACACATTCAC	0.522000														100			47		0	0	0.003610	0	0
OR2T1	26696	broad.mit.edu	37	1	248570069	248570069	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:248570069G>A	uc010pzm.2	+	0	774	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGCTGCTGATTCCTTTCT	0.507000														58			26		0	0	0.003330	0	0
MC2R	4158	broad.mit.edu	37	18	13884926	13884926	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:13884926G>A	uc002ksp.1	-	1	769	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	MC2R_uc021uhs.1_Silent_p.L198L	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	198					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGAGCCAGCAGGAACATGTGC	0.557000														33			24		0	0	0.002780	0	0
ANGPT2	285	broad.mit.edu	37	8	6371361	6371361	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:6371361A>C	uc003wqj.4	-	6	1366	c.1037T>G	c.(1036-1038)tTt>tGt	p.F346C	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Missense_Mutation_p.F345C|ANGPT2_uc010lri.3_Missense_Mutation_p.F294C|ANGPT2_uc003wql.4_Missense_Mutation_p.F345C	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	346	Fibrinogen C-terminal.				Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		AGGGTTACCAAATCCCTGTAA	0.338000														56			39		0	0	0.003214	0	0
APBA2	321	broad.mit.edu	37	15	29346358	29346358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:29346358C>T	uc001zck.3	+	2	475	c.271C>T	c.(271-273)Cct>Tct	p.P91S	APBA2_uc010azj.2_Missense_Mutation_p.P91S|APBA2_uc010uat.2_Missense_Mutation_p.P91S|APBA2_uc001zcl.3_Missense_Mutation_p.P91S|APBA2_uc010uas.1_Missense_Mutation_p.P91S	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	91					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CGAGGGCCTCCCTGAGGAGGA	0.607000														139			37		0	0	0.002222	0	0
GPR112	139378	broad.mit.edu	37	X	135430317	135430317	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:135430317G>A	uc004ezu.1	+	5	4743	c.4452G>A	c.(4450-4452)agG>agA	p.R1484R	GPR112_uc010nsb.1_Silent_p.R1279R|GPR112_uc010nsc.1_Silent_p.R1251R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1483Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCCGACAGGATCACTACAG	0.443000														23			80		0	0	0.003610	0	0
MUC5B	727897	broad.mit.edu	37	11	1157589	1157589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:1157589G>A	uc021qbr.1	+	6	817	c.770G>A	c.(769-771)aGg>aAg	p.R257K				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	253	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACCCCCGAGGAACTGCTCC	0.617000														17			4		0	0	0.000248	0	0
ATP11A	23250	broad.mit.edu	37	13	113487281	113487281	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:113487281C>T	uc001vsj.4	+	13	1591	c.1503C>T	c.(1501-1503)tcC>tcT	p.S501S	ATP11A_uc001vsi.4_Silent_p.S501S|ATP11A_uc001vsm.1_Silent_p.S377S	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	501					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGGGGAAATCCTGTGTGTACA	0.612000														143			71		0	0	0.003610	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112998998	112998998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:112998998C>T	uc001ebx.3	+	5	1112	c.884C>T	c.(883-885)aCc>aTc	p.T295I	CTTNBP2NL_uc001ebz.3_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA.	295						actin cytoskeleton	protein binding	p.T295T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACCAGTAACCGTGTCCAAA	0.458000														87			40		0	0	0.006230	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999863	45999863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:45999863G>A	uc002zfl.1	-	0	619	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	198	22 X 5 AA repeats of C-C-X(3).					keratin filament		p.S198*(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGGCAGCATGAAGTGGAAGC	0.632000														132			66		0	0	0.003610	0	0
RPL27	6155	broad.mit.edu	37	17	41152038	41152038	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:41152038T>A	uc002icj.3	+	2	215	c.170T>A	c.(169-171)aTg>aAg	p.M57K		NM_000988	NP_000979	P61353	RL27_HUMAN	Homo sapiens ribosomal protein L27 (RPL27), mRNA.	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)	3		Breast(137;0.000717)|Ovarian(249;0.0776)		BRCA - Breast invasive adenocarcinoma(366;0.157)		ACAGCTGCCATGGGCAAGAAG	0.453000														58			37		0	0	0.007835	0	0
HKDC1	80201	broad.mit.edu	37	10	71021050	71021050	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:71021050G>A	uc001jpf.4	+	16	2505	c.2372_splice	c.e16+1	p.S791_splice	HKDC1_uc010qje.2_Splice_Site_p.S654_splice|HKDC1_uc009xqb.3_Splice_Site	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	791					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGATCGAAAGGTGACCTGTG	0.517000														25			12		0	0	0.002450	0	0
FLNB	2317	broad.mit.edu	37	3	58154232	58154232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:58154232G>A	uc003djj.2	+	43	7429	c.7264G>A	c.(7264-7266)Gaa>Aaa	p.E2422K	FLNB_uc010hne.2_Missense_Mutation_p.E2453K|FLNB_uc003djk.2_Missense_Mutation_p.E2411K|FLNB_uc010hnf.2_Missense_Mutation_p.E2398K|FLNB_uc003djl.2_Missense_Mutation_p.E2242K|FLNB_uc003djm.2_Missense_Mutation_p.E2229K|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2422	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGTCACCATCGAAGGCCCATC	0.478000														43			16		0	0	0.004007	0	0
MASP1	5648	broad.mit.edu	37	3	186961301	186961301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:186961301G>A	uc003frh.2	-	8	1589	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	MASP1_uc003fri.3_Missense_Mutation_p.P400L|MASP1_uc003frj.3_Missense_Mutation_p.P369L	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	400	Sushi 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CTTGTAATAGGGCTCCTGACA	0.527000														67			27		0	0	0.006320	0	0
FGFR1	2260	broad.mit.edu	37	8	38285945	38285945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:38285945G>A	uc022aua.1	-	3	1309	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	FGFR1_uc011lbu.2_Missense_Mutation_p.P156S|FGFR1_uc011lbv.2_Missense_Mutation_p.P123S|FGFR1_uc011lbw.2_Missense_Mutation_p.P34S|FGFR1_uc003xlp.3_Missense_Mutation_p.P123S|FGFR1_uc022aub.1_Missense_Mutation_p.P123S|FGFR1_uc022auc.1_Missense_Mutation_p.P34S|FGFR1_uc022aud.1_Missense_Mutation_p.P34S|FGFR1_uc010lwk.3_Missense_Mutation_p.P115S|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_5'UTR|FGFR1_uc011lbt.1_Missense_Mutation_p.P34S|FGFR1_uc011lbx.1_Missense_Mutation_p.P34S|FGFR1_uc003xlv.3_Missense_Mutation_p.P34S|FGFR1_uc003xlu.3_Missense_Mutation_p.P34S|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	123					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TCCGAGGAGGGGAGAGCATCT	0.498000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							19			6		0	0	0.001168	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832259	24832259	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:24832259G>A	uc001iru.4	+	18	4463	c.4060G>A	c.(4060-4062)Gag>Aag	p.E1354K	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.E1037K|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.E190K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1354					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGACCCAAGGAGGCAAGGCA	0.423000														65			36		0	0	0.004878	0	0
OR52H1	390067	broad.mit.edu	37	11	5565953	5565953	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5565953G>A	uc010qzh.2	-	0	801	c.801C>T	c.(799-801)atC>atT	p.I267I	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATGGGCGAGGATGGAGAAAA	0.502000														65			41		0	0	0.002522	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987388	35987388	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:35987388C>T	uc003olm.3	-	1	208	c.97G>A	c.(97-99)Gag>Aag	p.E33K	SLC26A8_uc003oll.3_Missense_Mutation_p.E33K|SLC26A8_uc003oln.3_Missense_Mutation_p.E33K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	33					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.E33V(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGAAAGGTCTCCTCATTGTAT	0.498000														27			40		0	0	0.005524	0	0
C12orf63	374467	broad.mit.edu	37	12	97151344	97151344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:97151344C>T	uc021rcc.1	+	24	3371	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1098								p.S1098*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAAAAATTTCAGGATCACCA	0.303000														10			7		0	0	0.003080	0	0
C2orf29	55571	broad.mit.edu	37	2	101874356	101874356	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:101874356G>A	uc002taw.4	+	1	700	c.618G>A	c.(616-618)ctG>ctA	p.L206L		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	Homo sapiens chromosome 2 open reading frame 29 (C2orf29), mRNA.	206					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|skin(1)	17						AGATTGCACTGATGGACGTTG	0.493000														66			28		0	0	0.008361	0	0
IFT122	55764	broad.mit.edu	37	3	129221680	129221680	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:129221680C>T	uc003eml.3	+	20	2861	c.2655C>T	c.(2653-2655)ctC>ctT	p.L885L	IFT122_uc003emm.3_Silent_p.L834L|IFT122_uc003emn.3_Silent_p.L775L|IFT122_uc003emo.3_Silent_p.L723L|IFT122_uc003emp.3_Silent_p.L684L|IFT122_uc010htc.3_Silent_p.L826L|IFT122_uc011bky.2_Silent_p.L625L|IFT122_uc011bla.2_Silent_p.L607L|IFT122_uc003emr.3_Silent_p.L586L|IFT122_uc010hte.3_Silent_p.L160L|IFT122_uc003ems.3_Silent_p.L215L|IFT122_uc011bkx.1_Silent_p.L674L|IFT122_uc010htd.1_Silent_p.L313L	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	834					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGGGTGACCTCAAGTCCCTGG	0.637000														56			17		0	0	0.006122	0	0
OR3A1	4994	broad.mit.edu	37	17	3195211	3195211	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:3195211G>A	uc002fvh.1	-	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGCCACGTGGATATAGGAGA	0.522000														23			19		0	0	0.008871	0	0
UNC79	57578	broad.mit.edu	37	14	93963593	93963593	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:93963593C>T	uc001ybv.1	+	3	411	c.328C>T	c.(328-330)Cct>Tct	p.P110S	UNC79_uc001ybs.1_Missense_Mutation_p.P110S|UNC79_uc001ybu.1_Intron	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	287						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTAAAACCTCCTGGGGCAAT	0.498000														39			22		0	0	0.001882	0	0
CACNA1E	777	broad.mit.edu	37	1	181741317	181741317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:181741317G>A	uc009wxt.3	+	36	5284	c.5089G>A	c.(5089-5091)Gat>Aat	p.D1697N	CACNA1E_uc001gow.3_Missense_Mutation_p.D1697N|CACNA1E_uc009wxs.3_Missense_Mutation_p.D1678N|CACNA1E_uc001gox.1_Missense_Mutation_p.D923N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1697					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTGCGGCACCGATCTGGCCTA	0.557000														150			62		0	0	0.003610	0	0
LRP1B	53353	broad.mit.edu	37	2	141055473	141055473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:141055473C>T	uc002tvj.1	-	83	13843	c.12871G>A	c.(12871-12873)Gat>Aat	p.D4291N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4291	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4291Y(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGACAAAAATCCTCACAGACT	0.463000										TSP Lung(27;0.18)				118			52		0	0	0.003610	0	0
DUSP27	92235	broad.mit.edu	37	1	167097088	167097088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:167097088C>T	uc001geb.1	+	4	2736	c.2720C>T	c.(2719-2721)cCt>cTt	p.P907L		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	907	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGAAACCTGAAACAGAC	0.493000														43			22		0	0	0.002299	0	0
FAS	355	broad.mit.edu	37	10	90773113	90773113	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:90773113T>A	uc001kfr.3	+	7	1011	c.665T>A	c.(664-666)aTa>aAa	p.I222K	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Missense_Mutation_p.I201K|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Intron|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	222	Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		ACAGTGGCAATAAATTTATCT	0.274000														77			18		0	0	0.001523	0	0
PARVG	64098	broad.mit.edu	37	22	44602267	44602267	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:44602267G>A	uc011aqe.2	+	13	1381	c.957G>A	c.(955-957)aaG>aaA	p.K319K	PARVG_uc003bep.3_Silent_p.K319K|PARVG_uc011aqf.2_Silent_p.K319K	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	319					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACACGCAGAAGGCACACAGGG	0.627000														52			17		0	0	0.004990	0	0
EPHA6	285220	broad.mit.edu	37	3	97466357	97466357	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:97466357G>A	uc010how.1	+	16	3262	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	978						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GGCAATACAAGAATAACTTCG	0.413000														21			11		0	0	0.000978	0	0
METTL20	254013	broad.mit.edu	37	12	31814976	31814976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:31814976C>T	uc009zjr.3	+	1	298	c.89C>T	c.(88-90)cCc>cTc	p.P30L	METTL20_uc001rkl.3_Missense_Mutation_p.P30L|METTL20_uc001rkm.3_Missense_Mutation_p.P30L	NM_001135864	NP_776163	Q8IXQ9	MET20_HUMAN	Homo sapiens methyltransferase like 20 (METTL20), transcript variant 3, mRNA.	30						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						CTCTTGTTTCCCTGTGGCCAG	0.537000														89			38		0	0	0.004289	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017576	101017576	+	Silent	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:101017576A>T	uc001thu.3	+	9	1219	c.993A>T	c.(991-993)tcA>tcT	p.S331S	GAS2L3_uc009zty.3_Silent_p.S331S|GAS2L3_uc001thv.3_Silent_p.S227S	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	331					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AACAAAATTCAAAACCCAGCG	0.443000														20			16		0	0	0.006122	0	0
ACACA	31	broad.mit.edu	37	17	35445882	35445882	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:35445882T>A	uc002hnm.3	-	54	7099	c.6908A>T	c.(6907-6909)cAa>cTa	p.Q2303L	ACACA_uc002hnk.3_Missense_Mutation_p.Q2225L|ACACA_uc002hnl.3_Missense_Mutation_p.Q2245L|ACACA_uc002hnn.3_Missense_Mutation_p.Q2303L|ACACA_uc002hno.3_Missense_Mutation_p.Q2340L|ACACA_uc010cuy.3_Missense_Mutation_p.Q948L|ACACA_uc010wdb.2_Missense_Mutation_p.Q341L|ACACA_uc010wdc.2_Missense_Mutation_p.Q429L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2303					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGCGGATTTGCTTGAGGAC	0.463000														169			88		0	0	0.003610	0	0
TDRD5	163589	broad.mit.edu	37	1	179631385	179631385	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179631385G>A	uc010pnp.2	+	14	2987	c.2469G>A	c.(2467-2469)aaG>aaA	p.K823K	TDRD5_uc021pfm.1_Silent_p.K769K|TDRD5_uc001gnf.2_Silent_p.K769K|TDRD5_uc021pfn.1_Silent_p.K823K|TDRD5_uc001gnh.2_Silent_p.K324K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	811					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTGGTGGAAAGAATCAGTATT	0.448000														55			18		0	0	0.007413	0	0
CD163	9332	broad.mit.edu	37	12	7637763	7637763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7637763C>T	uc001qsz.3	-	10	2836	c.2708G>A	c.(2707-2709)tGg>tAg	p.W903*	CD163_uc001qta.3_Nonsense_Mutation_p.W903*|CD163_uc009zfw.2_Nonsense_Mutation_p.W936*	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	903	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGGCACTGCCACAGCGTGTC	0.507000														75			39		0	0	0.006230	0	0
PLCH1	23007	broad.mit.edu	37	3	155311970	155311970	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:155311970A>G	uc021xge.1	-	2	471	c.194T>C	c.(193-195)cTt>cCt	p.L65P	PLCH1_uc021xgd.1_Missense_Mutation_p.L65P|PLCH1_uc021xgf.1_Missense_Mutation_p.L47P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	65	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGAATCAATAAGTACTGTGAG	0.398000														43			20		0	0	0.003330	0	0
PRAME	23532	broad.mit.edu	37	22	22890689	22890689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:22890689G>A	uc002zwf.3	-	4	1486	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.P428S|PRAME_uc010gtr.3_Missense_Mutation_p.P444S|PRAME_uc002zwg.3_Missense_Mutation_p.P444S|PRAME_uc002zwh.3_Missense_Mutation_p.P444S|PRAME_uc002zwi.3_Missense_Mutation_p.P444S|PRAME_uc002zwj.3_Missense_Mutation_p.P444S|PRAME_uc002zwk.3_Missense_Mutation_p.P444S	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	444	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTCTCCAGGGGGACAGGATAC	0.567000														71			26		0	0	0.004656	0	0
AK096395	0	broad.mit.edu	37	12	6691950	6691950	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:6691950G>A	uc001qpq.1	+	1	241	c.153G>A	c.(151-153)agG>agA	p.R51R	CHD4_uc001qpn.3_Intron|CHD4_uc001qpo.3_Intron|CHD4_uc001qpp.3_Intron|SCARNA11_uc001qpr.1_5'Flank					Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.																		GAGGCAGCAGGTCGCATTCCA	0.478000														101			46		0	0	0.002852	0	0
ABCC10	89845	broad.mit.edu	37	6	43413384	43413384	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:43413384C>T	uc003ouy.1	+	14	3293	c.3078C>T	c.(3076-3078)aaC>aaT	p.N1026N	ABCC10_uc003ouz.1_Silent_p.N998N|ABCC10_uc010jyo.1_Silent_p.N132N	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1026	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATCCTAAACCGCTTCTCCT	0.627000														122			30		0	0	0.003755	0	0
HECW1	23072	broad.mit.edu	37	7	43484698	43484698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:43484698G>A	uc003tid.1	+	10	2532	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	HECW1_uc011kbi.1_Missense_Mutation_p.G643S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	643					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGGCCAATGGCGCGGCCCA	0.716000														19			11		0	0	0.001368	0	0
GLYAT	10249	broad.mit.edu	37	11	58491920	58491920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58491920G>A	uc001nnb.3	-	1	205	c.50C>T	c.(49-51)tCc>tTc	p.S17F	GLYAT_uc001nnc.3_Missense_Mutation_p.S17F	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17			S -> T (in dbSNP:rs10896818).		acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTTCCTCAAGGATTTCTCCAG	0.448000														118			56		0	0	0.003610	0	0
GABRG1	2565	broad.mit.edu	37	4	46060311	46060311	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:46060311G>A	uc003gxb.3	-	6	991	c.839C>T	c.(838-840)cCa>cTa	p.P280L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	280					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGAATGCATGGAATGTAGGT	0.343000														43			19		0	0	0.007413	0	0
SH3BP2	6452	broad.mit.edu	37	4	2826382	2826382	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:2826382C>T	uc003gfi.4	+	3	402	c.282C>T	c.(280-282)ttC>ttT	p.F94F	SH3BP2_uc010icn.2_Silent_p.F94F|SH3BP2_uc011bvp.2_Silent_p.F122F|SH3BP2_uc003gfj.4_Silent_p.F151F|SH3BP2_uc003gfk.4_Silent_p.F94F|SH3BP2_uc003gfl.4_Silent_p.F27F|SH3BP2_uc003gfm.4_5'Flank	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	94	PH.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ACAACGTTTTCCCCTTCAAGA	0.622000									Cherubism					53			26		0	0	0.006320	0	0
KCNAB1	7881	broad.mit.edu	37	3	156139422	156139422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:156139422G>A	uc003far.2	+	1	357	c.293G>A	c.(292-294)gGa>gAa	p.G98E	KCNAB1_uc011bon.1_Missense_Mutation_p.G98E|KCNAB1_uc003fas.2_Missense_Mutation_p.G87E|KCNAB1_uc003fat.2_Missense_Mutation_p.G80E|KCNAB1_uc010hvt.1_Missense_Mutation_p.G80E	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	98						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAAAATCAGGACTCAGAGTT	0.473000														119			50		0	0	0.003610	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796756	43796756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:43796756G>A	uc002zbb.2	-	10	1289	c.1088C>T	c.(1087-1089)cCt>cTt	p.P363L	TMPRSS3_uc002zay.2_Missense_Mutation_p.P120L|TMPRSS3_uc002zaz.2_Missense_Mutation_p.P236L|TMPRSS3_uc002zba.2_Missense_Mutation_p.P236L|TMPRSS3_uc002zbc.2_Missense_Mutation_p.P362L	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	363	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGAAATCAAAGGGACGGCCGC	0.607000														170			70		0	0	0.003610	0	0
TREML2	79865	broad.mit.edu	37	6	41165971	41165971	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:41165971C>T	uc010jxm.1	-	1	431	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	84	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCACCTTGGCCTGGGCATCGT	0.582000														97			40		0	0	0.007835	0	0
RANGAP1	5905	broad.mit.edu	37	22	41670628	41670628	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:41670628G>A	uc003azs.3	-	1	1686	c.216C>T	c.(214-216)gcC>gcT	p.A72A	RANGAP1_uc003azt.3_Silent_p.A72A|RANGAP1_uc003azu.3_Silent_p.A72A|RANGAP1_uc011aoz.2_Silent_p.A62A	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	72					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTCTCTAAGGCCTTGGCGA	0.537000														52			26		0	0	0.004656	0	0
TDRD6	221400	broad.mit.edu	37	6	46656732	46656732	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46656732T>C	uc003oyj.3	+	0	1121	c.867T>C	c.(865-867)ggT>ggC	p.G289G	TDRD6_uc010jze.3_Silent_p.G289G	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	289					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATACCGGGGTTCCACGGGGA	0.637000														33			10		0	0	0.008291	0	0
ABCA3	21	broad.mit.edu	37	16	2367371	2367371	+	Missense_Mutation	SNP	C	T	T	rs148726153		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:2367371C>T	uc002cpy.1	-	9	1736	c.1024G>A	c.(1024-1026)Gac>Aac	p.D342N	ABCA3_uc010bsk.1_Missense_Mutation_p.D342N|ABCA3_uc010bsl.1_Missense_Mutation_p.D342N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	342					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGGAGGGGTCGCTGCGGGAC	0.622000														82			36		0	0	0.006999	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798800	57798800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:57798800C>T	uc010rjz.2	+	0	376	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCCTATGATCGTTATGTGGC	0.517000														58			37		0	0	0.003755	0	0
LRRC7	57554	broad.mit.edu	37	1	70460244	70460244	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:70460244G>A	uc001dep.3	+	9	848	c.818_splice	c.e9-1	p.G273_splice	LRRC7_uc009wbg.3_Splice_Site	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	273						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTGCTTTAGGACTTTTGAAA	0.338000														94			33		0	0	0.001786	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462877	37462878	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:37462877_37462878CC>TT	uc003aqt.1	-	17	2366_2367	c.2304_2305GG>AA	c.(2302-2307)aaggat>aaAAat	p.D769N	TMPRSS6_uc003aqs.1_Missense_Mutation_p.D756N	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	756	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGACAGGCATCCTTCTTGCCCT	0.609000														16			12		0	0	0.004672	0	0
NBPF1	55672	broad.mit.edu	37	1	16902955	16902955	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16902955G>A	uc009vos.1	-	18	2814	c.1926C>T	c.(1924-1926)caC>caT	p.H642H	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.H100H|NBPF1_uc010oce.1_Silent_p.H371H	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	642						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GTTCCTGAGAGTGAACCAGGA	0.483000														494			11		0	0	0.001368	0	0
GLI2	2736	broad.mit.edu	37	2	121728001	121728001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:121728001C>T	uc010flp.3	+	5	908	c.878C>T	c.(877-879)cCc>cTc	p.P293L	GLI2_uc002tmq.1_5'UTR|GLI2_uc002tmr.1_5'UTR|GLI2_uc002tmt.4_5'UTR|GLI2_uc002tmu.4_5'UTR|GLI2_uc002tmv.1_Silent_p.P163P|GLI2_uc010flo.1_Missense_Mutation_p.P168L|GLI2_uc002tmw.1_Missense_Mutation_p.P293L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	293					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCCATCAACCCCGTGGCCTAC	0.627000														35			13		0	0	0.001855	0	0
GRIN2D	2906	broad.mit.edu	37	19	48946532	48946532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:48946532G>A	uc002pjc.4	+	12	3437	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N	GRIN2D_uc010elx.3_Missense_Mutation_p.D352N|GRWD1_uc002pjd.2_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	1117						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GGACTCGGAGGACTCGGAGAG	0.786000														5			8		0	0	0.006214	0	0
WDR7	23335	broad.mit.edu	37	18	54444026	54444026	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:54444026C>T	uc002lgk.1	+	16	3073	c.2862C>T	c.(2860-2862)gtC>gtT	p.V954V	WDR7_uc010dpk.1_Intron|WDR7_uc002lgl.1_Intron	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	954										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTGCACCTGTCGTTTCCGCTC	0.423000														324			101		0	0	0.003610	0	0
REV1	51455	broad.mit.edu	37	2	100065959	100065959	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:100065959G>A	uc002tad.3	-	3	401	c.189C>T	c.(187-189)tcC>tcT	p.S63S	REV1_uc002tac.3_Silent_p.S63S|REV1_uc002tae.1_Silent_p.S42S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	63	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTCCTCAGCGGAAGGATCTG	0.313000								Direct reversal of damage						42			30		0	0	0.006320	0	0
TSIX	9383	broad.mit.edu	37	X	73041921	73041921	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73041921C>T	uc004ebn.2	+	0		c.29882C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		AAATGCACTTCAAAACCAATT	0.428000														6			19		0	0	0.001882	0	0
ABCC9	10060	broad.mit.edu	37	12	21997449	21997449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21997449G>A	uc001rfh.3	-	25	3303	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTGAAAAGCGATTGAGAATC	0.353000														125			77		0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19425327	19425327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:19425327G>A	uc022btq.1	-	12	1823	c.1823C>T	c.(1822-1824)tCc>tTc	p.S608F	MAP3K15_uc004czj.2_Missense_Mutation_p.S43F|MAP3K15_uc004czk.2_Missense_Mutation_p.S83F	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	608							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCTTCGGTGGAAAAGTAGAT	0.338000														16			34		0	0	0.004289	0	0
CHD8	57680	broad.mit.edu	37	14	21871794	21871794	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:21871794G>A	uc001war.2	-	15	3401	c.3336C>T	c.(3334-3336)ttC>ttT	p.F1112F	CHD8_uc001was.2_Silent_p.F833F|CHD8_uc001wav.1_Silent_p.F275F	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1112					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGCTTCACGGAATTCTGTTA	0.388000														13			3		0	0	0.004672	0	0
PADI4	23569	broad.mit.edu	37	1	17690098	17690098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:17690098G>A	uc001baj.2	+	15	1868	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K		NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	614					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCTGGAGGAGAAGGTGTG	0.617000														22			14		0	0	0.003163	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313799	41313799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:41313799C>T	uc003jmm.1	-	2	988	c.886G>A	c.(886-888)Gat>Aat	p.D296N		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448000														37			25		0	0	0.007291	0	0
SEPT4	5414	broad.mit.edu	37	17	56599381	56599381	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:56599381G>A	uc010wnx.2	-	6	934	c.789C>T	c.(787-789)atC>atT	p.I263I	SEPT4_uc002iwk.2_Silent_p.I101I|SEPT4_uc010wnw.2_Silent_p.I101I|SEPT4_uc002iwl.2_Silent_p.I101I|SEPT4_uc002iwm.2_Silent_p.I248I|SEPT4_uc002iwo.2_Silent_p.I229I|SEPT4_uc002iwp.2_Silent_p.I229I|SEPT4_uc010wny.2_Silent_p.I240I|SEPT4_uc010dcy.2_Silent_p.I130I	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	248					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTTGTCTTGGATGTTCTTTC	0.557000														62			25		0	0	0.003330	0	0
CPNE4	131034	broad.mit.edu	37	3	131274382	131274382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:131274382G>A	uc011blq.2	-	11	1239	c.1129C>T	c.(1129-1131)Cct>Tct	p.P377S	CPNE4_uc003eok.3_Missense_Mutation_p.P359S|CPNE4_uc003eol.3_Missense_Mutation_p.P377S|CPNE4_uc003eom.3_Missense_Mutation_p.P359S	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	359	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CCAAAGGCAGGGAACATTTTG	0.388000														41			20		0	0	0.001882	0	0
ZNF831	128611	broad.mit.edu	37	20	57768659	57768659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:57768659C>T	uc002yan.3	+	0	2585	c.2585C>T	c.(2584-2586)cCc>cTc	p.P862L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	862						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGCCGATCCCGGGGAGGTG	0.647000														62			18		0	0	0.001523	0	0
PCNXL2	80003	broad.mit.edu	37	1	233137423	233137423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:233137423C>T	uc001hvl.2	-	28	5192	c.4957G>A	c.(4957-4959)Gat>Aat	p.D1653N	PCNXL2_uc001hvk.1_Missense_Mutation_p.D305N|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1653						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGAAAGAATCCAGGCTGCAA	0.408000														12			4		0	0	0.000602	0	0
ATRNL1	26033	broad.mit.edu	37	10	117704202	117704202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:117704202C>T	uc001lcg.3	+	28	4438	c.4052C>T	c.(4051-4053)tCa>tTa	p.S1351L	ATRNL1_uc010qsm.2_Missense_Mutation_p.S480L|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1351						integral to membrane	sugar binding	p.I1350N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATAGATATTTCACAACAGAAA	0.423000														34			18		0	0	0.004990	0	0
SLC6A13	6540	broad.mit.edu	37	12	352844	352844	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:352844C>T	uc001qic.2	-	3	427	c.337_splice	c.e3+1	p.G113_splice	SLC6A13_uc009zdj.2_Splice_Site_p.G113_splice|SLC6A13_uc010sdl.2_Intron|SLC6A13_uc010sdm.1_5'Flank	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	113					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCTACTCACCCTCAAAGAT	0.488000														38			20		0	0	0.003330	0	0
DCDC1	341019	broad.mit.edu	37	11	31312273	31312273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:31312273G>A	uc001msv.3	-	6	1119	c.881C>T	c.(880-882)tCa>tTa	p.S294L	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	294					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATTCGGACTGAGGTCCTCTC	0.373000														47			23		0	0	0.002780	0	0
CNGA4	1262	broad.mit.edu	37	11	6265409	6265409	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:6265409C>T	uc001mco.3	+	5	1613	c.1498C>T	c.(1498-1500)Cta>Tta	p.L500L	CNGA4_uc010raa.2_3'UTR|CNGA4_uc001mcn.3_3'UTR	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	500					response to stimulus|sensory perception of smell		cAMP binding	p.G499A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACGAGGCCTAGACCAGCA	0.557000														57			31		0	0	0.001786	0	0
SEMA5B	54437	broad.mit.edu	37	3	122629035	122629035	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:122629035G>A	uc003efz.1	-	22	3715	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	SEMA5B_uc011bju.1_Silent_p.F1043F|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003efy.1_Silent_p.F115F	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	1137					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCTCGGGCCGGAAGCTGTGTT	0.547000														53			24		0	0	0.005443	0	0
PIPSL	266971	broad.mit.edu	37	10	95720504	95720504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95720504G>A	uc009xuj.2	-	0	1169	c.650C>T	c.(649-651)tCc>tTc	p.S217F						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		CTCTTTCTGGGAAGCCCGCCG	0.443000														30			15		0	0	0.004990	0	0
FAM86A	196483	broad.mit.edu	37	16	5139114	5139114	+	Nonsense_Mutation	SNP	C	A	A	rs140633124		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:5139114C>A	uc002cyo.2	-	6	935	c.886G>T	c.(886-888)Gag>Tag	p.E296*	FAM86A_uc002cyp.2_Nonsense_Mutation_p.E262*	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	296										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TCACCTAGCTCGGTGGTGAAC	0.662000														100			57		4.67498e-28	8.50802e-28	0.003610	1	0
CDS2	8760	broad.mit.edu	37	20	5165588	5165588	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:5165588C>T	uc002wls.3	+	7	1088	c.756C>T	c.(754-756)atC>atT	p.I252I	CDS2_uc002wlr.2_Silent_p.I174I|CDS2_uc002wlw.3_Silent_p.I132I|CDS2_uc002wlv.3_Silent_p.I154I|CDS2_uc010zqv.2_Silent_p.I73I	NM_003818	NP_003809	O95674	CDS2_HUMAN	Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 (CDS2), mRNA.	252					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						CCCCACTCATCAAGGTAAATG	0.438000														96			56		0	0	0.003610	0	0
NCL	4691	broad.mit.edu	37	2	232324987	232324987	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:232324987C>T	uc002vru.3	-	5	1057	c.916G>A	c.(916-918)Gct>Act	p.A306T		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	306					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATTGAAAGCCGTAGTCGGT	0.363000														44			27		0	0	0.008361	0	0
EBF1	1879	broad.mit.edu	37	5	158140039	158140039	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:158140039C>T	uc010jip.3	-	12	1610	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_uc011ddw.2_Silent_p.V304V|EBF1_uc011ddx.2_Silent_p.V437V|EBF1_uc003lxl.4_Silent_p.V405V	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	436					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577000			T	HMGA2	lipoma									25			25		0	0	0.004656	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332676	130332676	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:130332676G>A	uc010scd.2	+	4	1542	c.1542_splice	c.e4+1	p.R514_splice		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	514	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAAGCACAGGGTGAGTGAGTG	0.652000														36			30		0	0	0.001786	0	0
COL4A5	1287	broad.mit.edu	37	X	107826129	107826129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:107826129C>T	uc022ccg.1	+	16	1154	c.952C>T	c.(952-954)Cct>Tct	p.P318S	COL4A5_uc004enz.1_Missense_Mutation_p.P318S|COL4A5_uc004eob.1_5'UTR	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	318	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.D317G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCTGGTGATCCTGGTTACCC	0.398000									Alport syndrome with Diffuse Leiomyomatosis					25			51		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131916126	131916126	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:131916126G>A	uc003ytd.4	-	6	2059	c.1803C>T	c.(1801-1803)atC>atT	p.I601I	ADCY8_uc010mds.3_Silent_p.I601I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	601					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTCCTTGACGATATCTTCAG	0.483000										HNSCC(32;0.087)				86			35		0	0	0.002836	0	0
AMPD3	272	broad.mit.edu	37	11	10517123	10517124	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:10517123_10517124GC>TT	uc001min.1	+	8	1645_1646	c.1300_1301GC>TT	c.(1300-1302)gcc>TTc	p.A434F	AMPD3_uc010rbz.1_Missense_Mutation_p.A266F|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.A425F|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.A432F|AMPD3_uc009yfy.2_Missense_Mutation_p.A425F	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	425					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCAGGAGGTTGCCCGGGAGCTG	0.614000														31			12		0	0	0.004672	0	0
NPHP3	27031	broad.mit.edu	37	3	132347256	132347256	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:132347256G>A	uc003eov.4	-	7	1378	c.998C>T	c.(997-999)tCa>tTa	p.S333L	NPHP3_uc011blr.1_5'Flank	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCCTCAGATGAATTATTTCC	0.348000														47			21		0	0	0.001523	0	0
DNAH3	55567	broad.mit.edu	37	16	21115835	21115835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:21115835G>A	uc010vbe.2	-	15	2323	c.2323C>T	c.(2323-2325)Ctc>Ttc	p.L775F	DNAH3_uc002die.2_Missense_Mutation_p.L729F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGTGAAGGAGCAAGTTCCGG	0.463000														142			72		0	0	0.003610	0	0
CCDC170	80129	broad.mit.edu	37	6	151939180	151939180	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:151939180G>A	uc003qol.3	+	10	2135	c.2046G>A	c.(2044-2046)ttG>ttA	p.L682L	U6_uc021zgw.1_5'Flank	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	682																	TTGAAAGATTGGTCCATTCAC	0.483000														32			35		0	0	0.004289	0	0
KSR2	283455	broad.mit.edu	37	12	118198935	118198935	+	Silent	SNP	C	T	T	rs35601697		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:118198935C>T	uc001two.2	-	3	835	c.780G>A	c.(778-780)ggG>ggA	p.G260G		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	289	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGTGGGGTCCCCGGGGGCT	0.677000														103			106		0	0	0.003610	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703436	33703436	+	Silent	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:33703436A>C	uc002num.2	-	3	765	c.618T>G	c.(616-618)ctT>ctG	p.L206L	SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Silent_p.L179L	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	206					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					AGATCTGGAGAAGGCCCACGC	0.642000														19			27		0	0	0.007291	0	0
OR56B1	387748	broad.mit.edu	37	11	5758008	5758008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5758008C>T	uc001mbt.2	+	0	331	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.P88S|OR56B1_uc009yev.1_Missense_Mutation_p.P88S	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P88S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		TACTATCATCCCTAAGATCCT	0.473000														35			22		0	0	0.001882	0	0
SAMD3	154075	broad.mit.edu	37	6	130476170	130476170	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:130476170C>T	uc003qbw.3	-	9	1151	c.823_splice	c.e9-1	p.E275_splice	SAMD3_uc003qbx.3_Splice_Site_p.E275_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	275										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		ACAGCTTCTTCCTGCAAAACA	0.353000														22			18		0	0	0.002780	0	0
CFB	629	broad.mit.edu	37	6	31901496	31901496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31901496G>A	uc011doo.2	+	1	268	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	CFB_uc003nyc.2_Missense_Mutation_p.R16Q|CFB_uc011dop.2_Silent_p.T61T|CFB_uc003nye.4_Silent_p.T184T|CFB_uc003nyf.3_Silent_p.T184T|CFB_uc010jtk.3_Silent_p.T52T|CFB_uc011doq.2_Silent_p.T155T|CFB_uc011dor.2_Silent_p.T122T			P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 2, mRNA.	684					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TTGTGCTCACGGGGTCTTCGG	0.647000														324			113		0	0	0.003610	0	0
C17orf74	201243	broad.mit.edu	37	17	7330779	7330779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7330779C>T	uc002ggw.3	+	2	1542	c.1469C>T	c.(1468-1470)cCc>cTc	p.P490L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	490						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTTGAGGCCCTCTCTGCAC	0.597000														21			17		0	0	0.004007	0	0
MYH2	4620	broad.mit.edu	37	17	10448744	10448744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:10448744C>T	uc010coi.3	-	4	552	c.424G>A	c.(424-426)Gcc>Acc	p.A142T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A142T|MYH2_uc010coj.3_Missense_Mutation_p.A142T	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	142	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCGGTAGGCTGTCACCACC	0.517000														53			69		0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62948193	62948193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:62948193G>A	uc001nwr.1	-	5	1009	c.1009C>T	c.(1009-1011)Ctt>Ttt	p.L337F	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.L337F	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	337					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AATTCACAAAGAGAATGCTTT	0.388000														71			19		0	0	0.001882	0	0
NSUN2	54888	broad.mit.edu	37	5	6611115	6611115	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:6611115G>A	uc003jdu.3	-	10	1560	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	NSUN2_uc003jdt.3_Silent_p.F157F|NSUN2_uc011cmk.2_Silent_p.F358F|NSUN2_uc003jdv.3_Silent_p.F157F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	393						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCTTCGGAGGGAACATGGTAG	0.592000														53			26		0	0	0.005443	0	0
ZNF385D	79750	broad.mit.edu	37	3	21706431	21706431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:21706431G>A	uc003cce.3	-	1	520	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	38						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGGAAAGGGAAGAAATGGT	0.512000														51			17		0	0	0.008871	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118553	118553	+	RNA	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrGL000205.1:118553G>A	uc002kgk.4	+	0		c.1931G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGAAAAAGAATCTGACGG	0.398000														57			7		0	0	0.001984	0	0
EIF4A1	1973	broad.mit.edu	37	17	7479909	7479910	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:7479909_7479910CC>TT	uc002gho.2	+	15	2976_2977	c.413_414CC>TT	c.(412-414)acc>aTT	p.T138I	EIF4A1_uc002ghr.1_Missense_Mutation_p.T138I|SNORD10_uc002ght.3_5'Flank|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	138	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ATCGGGGGCACCAACGTGCGTG	0.559000														28			20		0	0	0.004672	0	0
NGF	4803	broad.mit.edu	37	1	115829023	115829023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:115829023C>T	uc021osd.1	-	0	394	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	NGF_uc001efu.1_Missense_Mutation_p.E132K	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	132					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	ACCGAGAATTCGCCCCTGTGG	0.567000														37			24		0	0	0.002780	0	0
ZNF592	9640	broad.mit.edu	37	15	85327213	85327213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:85327213G>A	uc002bld.3	+	3	1643	c.1307G>A	c.(1306-1308)gGc>gAc	p.G436D	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	436					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTGAGGCAGGCACAAATTCA	0.627000														70			4		0	0	0.000248	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553894	84553894	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:84553894C>T	uc002bjz.4	+	9	1226	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ADAMTSL3_uc010bmt.1_Silent_p.F334F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	334						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.F334L(2)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTCAGTTCTTCTTTTACCAGC	0.493000														28			11		0	0	0.001855	0	0
FKBP11	51303	broad.mit.edu	37	12	49318397	49318397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49318397G>A	uc001rsp.3	-	2	349	c.230C>T	c.(229-231)tCc>tTc	p.S77F	FKBP11_uc010sma.2_5'UTR|FKBP11_uc001rsq.4_Missense_Mutation_p.S77F|FKBP11_uc010smb.1_Missense_Mutation_p.S77F	NM_016594	NP_057678	Q9NYL4	FKB11_HUMAN	Homo sapiens FK506 binding protein 11, 19 kDa (FKBP11), transcript variant 1, mRNA.	77	PPIase FKBP-type.				protein folding	integral to membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(3)|lung(1)	5						TCTGGTCAGGGAGGTGTCAAT	0.542000											OREG0021773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			27		0	0	0.007291	0	0
DSG4	147409	broad.mit.edu	37	18	28991327	28991327	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:28991327G>A	uc002kwr.2	+	13	2463	c.2328G>A	c.(2326-2328)agG>agA	p.R776R	DSG4_uc002kwq.2_Silent_p.R757R	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	757					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			gggccgcaAGGAAGAGGAGCT	0.607000														47			30		0	0	0.006320	0	0
ZNF90	7643	broad.mit.edu	37	19	20228868	20228868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:20228868G>A	uc002nor.2	+	3	644	c.505G>A	c.(505-507)Gga>Aga	p.G169R	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	169						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAGAGATACTGGAAAAAAACC	0.343000														11			6		0	0	0.003080	0	0
CCDC89	220388	broad.mit.edu	37	11	85396715	85396715	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:85396715C>T	uc001pau.1	-	0	606	c.459G>A	c.(457-459)gaG>gaA	p.E153E		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	153						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCTTCTCATTCTCCTCCCTCA	0.517000														34			40		0	0	0.007835	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529598	5529598	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:5529598G>A	uc021qcw.1	-	0	1191	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.P397P	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	397										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACTCCTCGGGGAGAGGCT	0.572000														96			46		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13788921	13788921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13788921C>T	uc003jfd.2	-	50	8593	c.8551G>A	c.(8551-8553)Gta>Ata	p.V2851I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2851					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2850F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCTCTACCAAACTTACT	0.418000									Kartagener syndrome					69			22		0	0	0.001882	0	0
DNAH8	1769	broad.mit.edu	37	6	38891805	38891805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:38891805C>T	uc021yzh.1	+	72	10938	c.10829C>T	c.(10828-10830)tCc>tTc	p.S3610F	DNAH8_uc003ooe.2_Missense_Mutation_p.S3393F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATTCCTTTCCTACCTTGGT	0.423000														110			26		0	0	0.005443	0	0
CYP7B1	9420	broad.mit.edu	37	8	65527628	65527628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:65527628G>A	uc003xvj.2	-	3	1216	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	338					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AGGTGGATGGGAAATCCAGAC	0.443000														39			18		0	0	0.003330	0	0
ENPP4	22875	broad.mit.edu	37	6	46107600	46107600	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:46107600T>C	uc003oxy.3	+	1	539	c.280T>C	c.(280-282)Tat>Cat	p.Y94H		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	94						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAATTCCATGTATGATGCAGT	0.388000														109			40		0	0	0.007835	0	0
FGA	2243	broad.mit.edu	37	4	155507290	155507290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:155507290C>T	uc003iod.1	-	4	1349	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K	FGA_uc003ioe.1_Missense_Mutation_p.E431K|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	431					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ACCAGTTTTTCTGTGTGGTAC	0.507000														132			70		0	0	0.003610	0	0
DSPP	1834	broad.mit.edu	37	4	88533813	88533813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:88533813G>A	uc003hqu.3	+	3	595	c.475G>A	c.(475-477)Gat>Aat	p.D159N		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	159					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		TGGAAATACTGATAAGAATAC	0.443000														19			5		0	0	0.001984	0	0
GALNT13	114805	broad.mit.edu	37	2	155099418	155099418	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:155099418G>A	uc002tyt.4	+	4	790	c.686_splice	c.e4+1	p.R229_splice	GALNT13_uc002tyr.4_Splice_Site_p.R229_splice|GALNT13_uc010foc.1_Splice_Site_p.R48_splice|GALNT13_uc010fod.3_5'Flank	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	229						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAGGAAGACAGGTAAGAATTT	0.433000														20			6		0	0	0.001984	0	0
SLC27A6	28965	broad.mit.edu	37	5	128362867	128362867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:128362867C>T	uc003kuy.3	+	7	1693	c.1297C>T	c.(1297-1299)Ccc>Tcc	p.P433S	SLC27A6_uc003kuz.3_Missense_Mutation_p.P433S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	433					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.P433S(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCAAAAAATCCCTTCTTTGG	0.378000														33			22		0	0	0.005443	0	0
TRIM51	84767	broad.mit.edu	37	11	55653012	55653012	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55653012G>A	uc010rip.2	+	1	200	c.108G>A	c.(106-108)cgG>cgA	p.R36R	TRIM51_uc010riq.2_5'Flank	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	36						intracellular	zinc ion binding										GCTTTTGCCGGCCCTGTTTGT	0.512000														15			7		0	0	0.001984	0	0
CHAF1A	10036	broad.mit.edu	37	19	4428807	4428807	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:4428807C>T	uc002mal.3	+	7	1624	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	508					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCCTTCTTGAAAGACC	0.607000								Chromatin Structure						51			30		0	0	0.001786	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596212	173596212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173596212C>T	uc001gja.1	-	3	644	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	211										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ACCTTGTCTTCCTTAAGGAGT	0.358000														115			36		0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7637811	7637811	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7637811G>A	uc001qsz.3	-	10	2788	c.2660C>T	c.(2659-2661)cCc>cTc	p.P887L	CD163_uc001qta.3_Missense_Mutation_p.P887L|CD163_uc009zfw.2_Missense_Mutation_p.P920L	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	887	SRCR 8.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACCCACATGGGAATGGACAT	0.552000														62			31		0	0	0.002836	0	0
DSC2	1824	broad.mit.edu	37	18	28649056	28649056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:28649056G>A	uc002kwl.4	-	14	2766	c.2312C>T	c.(2311-2313)aCc>aTc	p.T771I	DSC2_uc002kwk.4_Missense_Mutation_p.T771I	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	771					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGATCCCACGGTGCCACAAAC	0.512000														54			20		0	0	0.001523	0	0
BGN	633	broad.mit.edu	37	X	152772362	152772362	+	Missense_Mutation	SNP	C	T	T	rs142437366		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:152772362C>T	uc004fhr.2	+	5	987	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	251						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGACCTGCTTCGCTACTCCAA	0.622000														13			39		0	0	0.004878	0	0
ALPI	248	broad.mit.edu	37	2	233321872	233321872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:233321872G>A	uc002vst.4	+	4	565	c.488G>A	c.(487-489)gGa>gAa	p.G163E	ALPI_uc002vsu.4_Missense_Mutation_p.G74E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	163					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AAGTCAGTAGGAGTGGTGACC	0.622000														32			21		0	0	0.002299	0	0
SCN5A	6331	broad.mit.edu	37	3	38671912	38671912	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38671912G>A	uc021wvo.1	-	1	334	c.282C>T	c.(280-282)atC>atT	p.I94I	SCN5A_uc021wvk.1_Silent_p.I94I|SCN5A_uc021wvl.1_Silent_p.I94I|SCN5A_uc021wvm.1_Silent_p.I94I|SCN5A_uc021wvn.1_Silent_p.I94I|SCN5A_uc021wvp.1_Silent_p.I94I|SCN5A_uc021wvq.1_Silent_p.I94I|SCN5A_uc021wvr.1_Silent_p.I94I|SCN5A_uc021wvs.1_Silent_p.I94I|SCN5A_uc021wvt.1_Silent_p.I94I|SCN5A_uc021wvu.1_Silent_p.I94I|SCN5A_uc021wvv.1_Silent_p.I94I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	94					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TATTCAGTACGATGAAAGTCT	0.542000														59			69		0	0	0.003610	0	0
NYAP1	222950	broad.mit.edu	37	7	100087124	100087124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100087124G>A	uc003uvd.1	+	3	1939	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	NYAP1_uc003uve.1_Missense_Mutation_p.G376R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	594																	GCAGGAGCAAGGGACCGATGG	0.637000														48			27		0	0	0.008361	0	0
EIF3A	8661	broad.mit.edu	37	10	120801507	120801507	+	Splice_Site	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:120801507T>C	uc001ldu.3	-	19	3672	c.3526_splice	c.e19+1	p.G1176_splice	EIF3A_uc010qsu.2_Splice_Site_p.G1142_splice|EIF3A_uc009xzg.1_Splice_Site_p.G215_splice	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1176	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GAATTTTACCTGGCTTGACTA	0.408000														49			15		0	0	0.006122	0	0
IGSF5	150084	broad.mit.edu	37	21	41151098	41151098	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:41151098T>C	uc002yyo.3	+	4	903	c.800T>C	c.(799-801)gTt>gCt	p.V267A		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	267						integral to membrane|tight junction		p.V267A(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGGCAAAGTTGGACTTGGA	0.463000														61			24		0	0	0.003954	0	0
PALLD	23022	broad.mit.edu	37	4	169589389	169589389	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:169589389C>T	uc011cjx.2	+	2	1168	c.957C>T	c.(955-957)atC>atT	p.I319I	PALLD_uc003iru.3_Silent_p.I319I|PALLD_uc003irv.3_5'UTR	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	319	Ig-like C2-type 1.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATATTCAAATCCACTGTGAGG	0.512000									Pancreatic Cancer, Familial Clustering of					70			34		0	0	0.007835	0	0
OTOGL	283310	broad.mit.edu	37	12	80663925	80663925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:80663925C>T	uc001szd.3	+	21	2488	c.2482C>T	c.(2482-2484)Ccc>Tcc	p.P828S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATTAGCAACGCCCTCTGCTGG	0.388000											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model		15			6		0	0	0.001168	0	0
HAO2	51179	broad.mit.edu	37	1	119936448	119936448	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:119936448G>A	uc001ehr.1	+	7	1173	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q	HAO2_uc001ehq.1_Silent_p.Q347Q	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	347	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		ACTTGGTCCAGTTTTCCAGGC	0.473000														99			56		0	0	0.003610	0	0
XDH	7498	broad.mit.edu	37	2	31606681	31606681	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:31606681G>A	uc002rnv.1	-	9	905	c.826C>T	c.(826-828)Cct>Tct	p.P276S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	276	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAATCATAGGAAACAGCATA	0.493000														33			14		0	0	0.002450	0	0
SIRPG	55423	broad.mit.edu	37	20	1629935	1629935	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:1629935G>A	uc002wfm.1	-	1	258	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L	SIRPG_uc002wfn.1_Silent_p.L65L|SIRPG_uc002wfo.1_Silent_p.L65L	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	65	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGAACCACAGGACGGGTCCC	0.517000														57			31		0	0	0.002445	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39414279	39414279	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:39414279A>G	uc003awr.3	+	3	563	c.460A>G	c.(460-462)Aaa>Gaa	p.K154E	APOBEC3D_uc021wpq.1_5'Flank|APOBEC3D_uc003awt.4_5'Flank|APOBEC3D_uc010gxu.3_5'Flank|APOBEC3D_uc003awu.4_5'Flank	NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA.	154					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CTCAGATTTTAAATATTGTTG	0.483000														163			78		0	0	0.003610	0	0
NYAP2	57624	broad.mit.edu	37	2	226447391	226447391	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:226447391C>T	uc002voe.2	+	3	1433	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.L190L	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	420	Pro-rich.																CCCGTCTACGCTGTACCGAAC	0.662000														10			7		0	0	0.001984	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184259	26184259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:26184259C>T	uc003ngt.3	+	0	236	c.236C>T	c.(235-237)tCc>tTc	p.S79F		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	79					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						GGCGAGGCTTCCCGCCTGGCG	0.617000														84			86		0	0	0.003610	0	0
GOSR1	9527	broad.mit.edu	37	17	28817161	28817161	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:28817161C>T	uc002hfe.3	+	4	392	c.366C>T	c.(364-366)ttC>ttT	p.F122F	GOSR1_uc002hfd.3_Silent_p.F120F|GOSR1_uc002hff.3_Silent_p.F57F	NM_004871	NP_001007025	O95249	GOSR1_HUMAN	Homo sapiens golgi SNAP receptor complex member 1 (GOSR1), transcript variant 1, mRNA.	122					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						CACATGAATTCCATAAAACCA	0.328000														20			7		0	0	0.004482	0	0
ZEB2	9839	broad.mit.edu	37	2	145147368	145147368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:145147368C>T	uc002tvu.3	-	9	3817	c.3295G>A	c.(3295-3297)Ggg>Agg	p.G1099R	ZEB2_uc010zbm.2_Missense_Mutation_p.G1075R|ZEB2_uc002tvv.3_Missense_Mutation_p.G1093R|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1099	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCAAGTGCCCTTTCTCGCGC	0.617000														63			30		0	0	0.008361	0	0
CYB5R4	51167	broad.mit.edu	37	6	84627757	84627757	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:84627757T>G	uc003pkf.3	+	5	611	c.479T>G	c.(478-480)cTt>cGt	p.L160R		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	160					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ACAGATACACTTGCCAAAGAA	0.284000														54			4		0	0	0.000602	0	0
SCN10A	6336	broad.mit.edu	37	3	38768199	38768199	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38768199G>A	uc003ciq.3	-	15	2985	c.2985C>T	c.(2983-2985)gtC>gtT	p.V995V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	995					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGCACAGAGACCCACACAG	0.567000														69			42		0	0	0.002852	0	0
THSD7B	80731	broad.mit.edu	37	2	137852488	137852488	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:137852488C>T	uc002tva.1	+	2	903	c.903C>T	c.(901-903)atC>atT	p.I301I	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Silent_p.I191I	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGTCCTGCATCATGCCCAAAG	0.488000														109			47		0	0	0.003610	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36096921	36096921	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:36096921G>A	uc001wtj.3	-	32	5105	c.4714C>T	c.(4714-4716)Cag>Tag	p.Q1572*	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Nonsense_Mutation_p.Q1572*|RALGAPA1_uc010tpv.2_Nonsense_Mutation_p.Q1585*|RALGAPA1_uc010tpw.1_Nonsense_Mutation_p.Q1619*	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1572	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						gatctgatctggatacaggac	0.393000														30			14		0	0	0.007413	0	0
DICER1	23405	broad.mit.edu	37	14	95570394	95570394	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:95570394G>A	uc001ydw.2	-	21	3551	c.3339C>T	c.(3337-3339)tcC>tcT	p.S1113S	DICER1_uc010avh.1_Intron|DICER1_uc021sbc.1_Silent_p.S1113S|DICER1_uc001ydv.2_Silent_p.S1103S|DICER1_uc001ydx.2_Silent_p.S1113S|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_Silent_p.S395S	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1113					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGCTGAAGAGGAGTTAGAAA	0.363000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					31			12		0	0	0.000978	0	0
RGS5	8490	broad.mit.edu	37	1	163138122	163138122	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:163138122G>A	uc001gcn.3	-	1	419	c.81C>T	c.(79-81)ctC>ctT	p.L27L	RGS5_uc021pdu.1_5'UTR|RGS5_uc021pdt.1_Silent_p.L27L|RGS5_uc009wvb.3_Intron	NM_003617	NP_003608	O15539	RGS5_HUMAN	Homo sapiens regulator of G-protein signaling 5 (RGS5), transcript variant 1, mRNA.	27					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CTGGCTTCTGGAGGAGAATTC	0.453000														276			101		0	0	0.003610	0	0
C18orf26	284254	broad.mit.edu	37	18	52258483	52258483	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:52258483G>A	uc002lfq.1	+	0	94	c.48G>A	c.(46-48)tgG>tgA	p.W16*		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	16						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		AATATTCTTGGAGAGAAGCTT	0.398000														78			41		0	0	0.006230	0	0
CNOT4	4850	broad.mit.edu	37	7	135047761	135047761	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:135047761G>A	uc011kpy.2	-	11	2349	c.2018C>T	c.(2017-2019)cCc>cTc	p.P673L	CNOT4_uc011kpz.2_Missense_Mutation_p.P670L|CNOT4_uc003vst.3_Missense_Mutation_p.P602L|CNOT4_uc003vss.3_Missense_Mutation_p.P599L	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	344					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGGAGGGTAGGGATTCCAACT	0.607000														102			51		0	0	0.003610	0	0
OTOF	9381	broad.mit.edu	37	2	26712562	26712562	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:26712562T>C	uc002rhk.3	-	9	1071	c.944A>G	c.(943-945)aAg>aGg	p.K315R		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	315	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGATGATCTTGTCAAACAT	0.582000														34			16		0	0	0.008871	0	0
CSMD1	64478	broad.mit.edu	37	8	2836311	2836311	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2836311A>T	uc022aqr.1	-	54	8779	c.8389T>A	c.(8389-8391)Tct>Act	p.S2797T	CSMD1_uc011kwj.2_Missense_Mutation_p.S2127T|CSMD1_uc010lrg.3_Missense_Mutation_p.S808T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2798	Sushi 20.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGGATCAGAACAGTTCACC	0.393000														18			8		0	0	0.003080	0	0
TRIM31	11074	broad.mit.edu	37	6	30080208	30080208	+	Silent	SNP	G	A	A	rs151255204	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30080208G>A	uc003npg.1	-	1	485	c.375C>T	c.(373-375)tcC>tcT	p.S125S	TRIM31_uc003npi.3_Non-coding_Transcript	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN	Homo sapiens tripartite motif containing 31 (TRIM31), mRNA.	125						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGACATTATGGGATTTGTGGT	0.507000														69			28		0	0	0.001786	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64184508	64184508	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:64184508A>C	uc003dmf.3	-	1	682	c.96T>G	c.(94-96)tgT>tgG	p.C32W		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	32	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTTCCAAAGCACAGCCTGAGT	0.522000														52			26		0	0	0.003954	0	0
NR0B2	8431	broad.mit.edu	37	1	27240295	27240295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:27240295G>A	uc001bnf.3	-	0	273	c.137C>T	c.(136-138)cCc>cTc	p.P46L	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	46					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TAGCTGGACGGGCCGGTGCTG	0.642000														46			21		0	0	0.003954	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250551	140250551	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140250551C>T	uc003lia.2	+	0	2721	c.1863C>T	c.(1861-1863)ttC>ttT	p.F621F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.F621F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	633	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.647000														26			25		0	0	0.006320	0	0
MAP1A	4130	broad.mit.edu	37	15	43820992	43820992	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:43820992C>T	uc001zrt.3	+	3	7788	c.7321C>T	c.(7321-7323)Cct>Tct	p.P2441S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2441						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGCCACTGAGCCTCGGCCCCA	0.647000														38			17		0	0	0.006122	0	0
C1orf158	93190	broad.mit.edu	37	1	12815748	12815748	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:12815748G>A	uc001auh.3	+	1	426	c.210G>A	c.(208-210)ggG>ggA	p.G70G	C1orf158_uc010obe.1_Silent_p.G70G	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	70										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGTATGGGAAGAGGAAAG	0.522000														47			23		0	0	0.002780	0	0
CSPP1	79848	broad.mit.edu	37	8	68007610	68007610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:68007610C>T	uc003xxi.3	+	7	729	c.698C>T	c.(697-699)tCa>tTa	p.S233L	CSPP1_uc003xxg.1_Missense_Mutation_p.S225L|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.S198L|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	233						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGTGAAAATTCAGAGGGTCCT	0.378000														71			32		0	0	0.002096	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20495396	20495396	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:20495396C>T	uc001ytf.1	+	4		c.599C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		GTTTCAAGATCTTCTGTGTGA	0.413000														179			11		0	0	0.001368	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710888	14710888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:14710888G>A	uc010dzn.2	+	11	865	c.788G>A	c.(787-789)gGc>gAc	p.G263D	CLEC17A_uc010dzo.2_Missense_Mutation_p.G263D|CLEC17A_uc002mzh.2_Missense_Mutation_p.G246D|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	263	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCCTTTGAGGGCAAGTGTTAC	0.527000														34			16		0	0	0.007413	0	0
ROBO2	6092	broad.mit.edu	37	3	77629185	77629185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:77629185C>T	uc011bgk.2	+	16	3071	c.2428C>T	c.(2428-2430)Cca>Tca	p.P810S	ROBO2_uc021xat.1_Missense_Mutation_p.P822S|ROBO2_uc003dpy.4_Missense_Mutation_p.P806S|ROBO2_uc003dpz.3_Missense_Mutation_p.P810S|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	806	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATTATTCCCAGGTATTCA	0.438000														79			40		0	0	0.007835	0	0
CD1B	910	broad.mit.edu	37	1	158300601	158300601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:158300601C>T	uc001frx.3	-	1	421	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CD1B_uc001frw.3_Missense_Mutation_p.D105N|CD1B_uc010pic.1_Missense_Mutation_p.D105N	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	105					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.G104R(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATCTGGAAATCACCGGCAAAG	0.433000														282			100		0	0	0.003610	0	0
ABCB11	8647	broad.mit.edu	37	2	169780207	169780207	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:169780207C>T	uc002ueo.1	-	27	4017	c.3891G>A	c.(3889-3891)aaG>aaA	p.K1297K	ABCB11_uc010zda.1_Silent_p.K715K|ABCB11_uc010zdb.1_Silent_p.K773K	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1297	ABC transporter 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CATGGGTCCCCTTTTCAATCA	0.522000														41			24		0	0	0.004656	0	0
ZFP91	80829	broad.mit.edu	37	11	58380311	58380311	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58380311C>T	uc001nmx.4	+	7	1153	c.985C>T	c.(985-987)Cag>Tag	p.Q329*	ZFP91_uc001nmy.4_Nonsense_Mutation_p.Q328*|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	329					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCGCTATTTGCAGGTCAGTGA	0.408000														75			27		0	0	0.006320	0	0
ENPEP	2028	broad.mit.edu	37	4	111474532	111474532	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:111474532C>T	uc003iab.4	+	17	2905	c.2563C>T	c.(2563-2565)Cga>Tga	p.R855*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	855					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.R855*(2)|p.R855Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TACAGTCATTCGATATATCTC	0.388000														94			45		0	0	0.002222	0	0
EBF3	253738	broad.mit.edu	37	10	131646670	131646670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:131646670C>T	uc021qav.1	-	10	1146	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	EBF3_uc001lki.2_Missense_Mutation_p.E363K	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.Q349*(3)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGTAACCTTTCGGGATCACCC	0.532000														88			48		0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121440892	121440892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:121440892C>T	uc001pxx.3	+	22	3379	c.3250C>T	c.(3250-3252)Cgc>Tgc	p.R1084C		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1084	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAACCAGTATCGCTGCAGCAA	0.493000														36			43		0	0	0.003214	0	0
C1orf114	57821	broad.mit.edu	37	1	169364365	169364365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169364365C>T	uc001gga.1	-	5	1618	c.1450G>A	c.(1450-1452)Gct>Act	p.A484T	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Missense_Mutation_p.A483T|C1orf114_uc009wvq.1_Missense_Mutation_p.A483T	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	484										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					GAACGCTTAGCTTCTAGTCGG	0.383000														74			28		0	0	0.006320	0	0
FCRL2	79368	broad.mit.edu	37	1	157740218	157740218	+	Silent	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:157740218T>A	uc001fre.2	-	2	350	c.291A>T	c.(289-291)atA>atT	p.I97I	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.I97I|FCRL2_uc009wsp.2_Silent_p.I97I|FCRL2_uc010pia.1_Silent_p.I97I	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	97	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTATCTTTACTATATTTGAAG	0.443000														91			34		0	0	0.002836	0	0
TPRG1	285386	broad.mit.edu	37	3	189038470	189038470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:189038470C>T	uc003frv.2	+	10	1916	c.689C>T	c.(688-690)tCa>tTa	p.S230L	TPRG1_uc003frw.2_Missense_Mutation_p.S230L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	230										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAAGAATTCAACTGGATCT	0.403000														39			14		0	0	0.002450	0	0
TGFBR1	7046	broad.mit.edu	37	9	101894867	101894867	+	Silent	SNP	A	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:101894867A>T	uc004azc.3	+	2	496	c.420A>T	c.(418-420)tcA>tcT	p.S140S	TGFBR1_uc004azd.3_Intron|TGFBR1_uc004aze.3_Silent_p.S144S|TGFBR1_uc011lvc.2_Silent_p.S71S	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	140					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCTGCATCTCACTCATGTTGA	0.488000														28			39		0	0	0.003610	0	0
AKTIP	64400	broad.mit.edu	37	16	53529055	53529055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:53529055C>T	uc002ehm.3	-	4	526	c.344G>A	c.(343-345)gGa>gAa	p.G115E	AKTIP_uc002ehk.3_Missense_Mutation_p.G115E|AKTIP_uc002ehl.3_Missense_Mutation_p.G115E|AKTIP_uc010vgx.2_Missense_Mutation_p.G115E	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	115					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTGGTAAAGTCCATGCCGTAT	0.378000														253			112		0	0	0.003610	0	0
POLQ	10721	broad.mit.edu	37	3	121178906	121178906	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:121178906C>A	uc003eee.4	-	24	7272	c.7143G>T	c.(7141-7143)caG>caT	p.Q2381H	POLQ_uc003eed.3_Missense_Mutation_p.Q1553H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2381					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTGTTTTGCCTGCTGCCTCA	0.383000								DNA polymerases (catalytic subunits)						118			47		1.52121e-46	2.77034e-46	0.003610	1	0
FMN2	56776	broad.mit.edu	37	1	240341340	240341340	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:240341340G>A	uc010pye.2	+	2	2127	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	FMN2_uc010pyd.2_Silent_p.E634E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	634					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCGATGAGGAACACAGGC	0.478000														46			17		0	0	0.007413	0	0
RNF148	378925	broad.mit.edu	37	7	122342428	122342428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:122342428C>T	uc003vkk.1	-	0	594	c.377G>A	c.(376-378)gGg>gAg	p.G126E	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	126	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GATGATCACCCCATTTGCTCC	0.488000														219			81		0	0	0.003610	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604695	62604695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:62604695C>T	uc003peg.2	-	5	902	c.655G>A	c.(655-657)Ggt>Agt	p.G219S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	219	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.G219D(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GTGAGAACACCTCGTCCAGGT	0.592000														44			25		0	0	0.006320	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803026	185803026	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:185803026C>T	uc002uph.3	+	3	3497	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	968						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAGCCTAAATCCTATCTTTGC	0.383000														58			21		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179483462	179483462	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179483462A>G	uc021vsy.1	-	199	39336	c.39111T>C	c.(39109-39111)aaT>aaC	p.N13037N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.N6732N|TTN_uc021vta.1_Silent_p.N6665N|TTN_uc021vtb.1_Silent_p.N6540N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13964							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAAAGGTTCATTTTCTTTAA	0.413000														31			16		0	0	0.004007	0	0
ABCA8	10351	broad.mit.edu	37	17	66902259	66902259	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:66902259T>C	uc002jhq.3	-	18	2664	c.2324A>G	c.(2323-2325)aAt>aGt	p.N775S	ABCA8_uc002jhp.3_Missense_Mutation_p.N735S|ABCA8_uc010wqq.2_Missense_Mutation_p.N775S|ABCA8_uc010wqr.2_Missense_Mutation_p.N714S|ABCA8_uc002jhr.3_Missense_Mutation_p.N775S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	735						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AACACCATAATTCTCAATTCC	0.313000														84			54		0	0	0.003610	0	0
YLPM1	56252	broad.mit.edu	37	14	75265468	75265470	+	Missense_Mutation	DNP	AT	CC	CC			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75265468_75265470AT>CC	uc001xqj.4	+	4	3592_3594	c.3468_3470AT>CC	c.(3466-3471)ggactg>ggCCg	p.L1157del	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	962	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAGAAAGGGGACTGGGAAGATCA	0.552000														24			10		0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857612	9857612	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:9857612C>T	uc010uym.2	-	13	4099	c.3789G>A	c.(3787-3789)ggG>ggA	p.G1263G	GRIN2A_uc002czo.4_Silent_p.G1263G|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1263					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1262T(1)|p.G1263R(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGACCTGCTCCCCGGTGGCTG	0.527000														36			23		0	0	0.002299	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127253	62127253	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:62127253C>G	uc002yfe.1	-	2	446	c.280G>C	c.(280-282)Ggc>Cgc	p.G94R		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	94						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCGCGGTGGCCGGGGGCATCG	0.612000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			32		0	0	0.006230	0	0
ING5	84289	broad.mit.edu	37	2	242644072	242644072	+	Silent	SNP	C	T	T	rs139118032	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:242644072C>T	uc002wcd.3	+	1	67	c.42C>T	c.(40-42)atC>atT	p.I14I	ING5_uc021vzk.1_Silent_p.I14I	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	14					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTTCAGGTATCGAGAACCTTC	0.468000														107			42		0	0	0.003610	0	0
FAM114A1	92689	broad.mit.edu	37	4	38937390	38937390	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38937390G>A	uc003gtn.3	+	12	1774	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	FAM114A1_uc011byh.2_Silent_p.T298T|FAM114A1_uc010ifi.3_Silent_p.T163T	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN	Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA.	505						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAAGTTTACGAATTCTTTAA	0.343000														61			27		0	0	0.007291	0	0
KRT15	3866	broad.mit.edu	37	17	39674971	39674971	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39674971C>A	uc002hwy.3	-	0	300	c.109G>T	c.(109-111)Ggg>Tgg	p.G37W	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	37	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CCACCTCCCCCAGAGAGACTC	0.587000														107			7		0.00307968	0.00552615	0.003080	1	0
KRT38	8687	broad.mit.edu	37	17	39594367	39594368	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39594367_39594368GG>AA	uc002hwq.1	-	5	1641_1642	c.1218_1219CC>TT	c.(1216-1221)aacctt>aaTTtt	p.L407F		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	407	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CTTTCCAGAAGGTTCCGGTACG	0.550000														35			19		0	0	0.004672	0	0
CES5A	221223	broad.mit.edu	37	16	55907910	55907910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:55907910C>T	uc021tir.1	-	2	346	c.200G>A	c.(199-201)gGa>gAa	p.G67E	CES5A_uc002eip.2_Missense_Mutation_p.G38E|CES5A_uc002eio.2_Missense_Mutation_p.G38E|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_5'UTR	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	38						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGAATCCATCCCAGCCTGGT	0.632000														19			5		0	0	0.000602	0	0
CEP290	80184	broad.mit.edu	37	12	88478622	88478622	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:88478622T>C	uc001tar.3	-	34	4789	c.4445A>G	c.(4444-4446)aAa>aGa	p.K1482R	CEP290_uc001taq.3_Missense_Mutation_p.K542R	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1482					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCTTTCTCTTTTAGTTTCTG	0.299000														3			6		0	0	0.001168	0	0
HNF1B	6928	broad.mit.edu	37	17	36059181	36059181	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:36059181T>C	uc002hok.4	-	7	1775	c.1554A>G	c.(1552-1554)gaA>gaG	p.E518E	HNF1B_uc021tvu.1_Silent_p.E223E|HNF1B_uc010wdi.2_Silent_p.E492E|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	518					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACTGGGGGGGTTCCTGCTTGT	0.517000														281			147		0	0	0.003610	0	0
DMC1	11144	broad.mit.edu	37	22	38934544	38934544	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:38934544C>T	uc003avz.1	-	10	835	c.660_splice	c.e10+1	p.L220_splice	DMC1_uc011anv.1_Splice_Site_p.L165_splice	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	220					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAGCTTGTACCAATAGCTTGA	0.353000								Homologous recombination						121			56		0	0	0.003610	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54919307	54919307	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:54919307G>A	uc003dhf.3	+	22	1961	c.1913_splice	c.e22-1	p.G638_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.G544_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site_p.G372_splice|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	638						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TTGACCCCCAGGCCTGCATGA	0.502000														46			30		0	0	0.008361	0	0
GPR128	84873	broad.mit.edu	37	3	100368602	100368602	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:100368602C>T	uc003duc.3	+	10	1598	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GPR128_uc011bhc.2_Silent_p.L145L	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	444					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGGATGTGCACTGTCTGTTAC	0.358000														43			23		0	0	0.003954	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552809	50552809	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:50552809G>A	uc003bjj.3	+	7	968	c.885_splice	c.e7-1	p.E295_splice	MOV10L1_uc003bjk.4_Splice_Site_p.E295_splice|MOV10L1_uc011arp.2_Splice_Site_p.E275_splice|MOV10L1_uc011arq.1_Splice_Site_p.E56_splice|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	295					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TATTTTTCCAGGAATAAAGGA	0.358000														39			24		0	0	0.002780	0	0
SELE	6401	broad.mit.edu	37	1	169701903	169701903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:169701903C>T	uc001ggm.4	-	2	431	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	92	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGGCTTCTTCTGTCAGAGGT	0.448000														35			13		0	0	0.001368	0	0
ABCA12	26154	broad.mit.edu	37	2	215914501	215914501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:215914501C>T	uc002vew.3	-	5	762	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	181					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAGTTCTCTTCGTATATCTTC	0.313000														33			15		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755706	140755706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140755706G>A	uc003ljy.2	+	0	2056	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.D686N	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	687					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAACCCAACGATTCGGACCT	0.677000														30			31		0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42643132	42643132	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:42643132C>T	uc010dni.3	+	5	4556	c.4260C>T	c.(4258-4260)atC>atT	p.I1420I		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1420						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACACCAAGATCCTGTCCACCA	0.552000									Schinzel-Giedion syndrome					32			14		0	0	0.003163	0	0
CSMD1	64478	broad.mit.edu	37	8	2965279	2965279	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2965279G>A	uc022aqr.1	-	44	7186	c.6796C>T	c.(6796-6798)Cag>Tag	p.Q2266*	CSMD1_uc011kwj.2_Nonsense_Mutation_p.Q1659*|CSMD1_uc010lrg.3_Nonsense_Mutation_p.Q335*	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2267	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATTTCTGCCTGTGGAACCGCT	0.353000														112			44		0	0	0.003610	0	0
HCFC1	3054	broad.mit.edu	37	X	153222161	153222162	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:153222161_153222162GG>AA	uc004fjp.3	-	14	3077_3078	c.2549_2550CC>TT	c.(2548-2550)ccc>cTT	p.P850L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	850	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACCCCCCATGGGCACAGTGCG	0.634000														19			41		0	0	0.004672	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925237	4925237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrY:4925237C>T	uc004fqo.3	+	0	1107	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	PCDH11Y_uc010nwg.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fql.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R114C|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R125C	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	125	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCGCATTGATCGTGAGAAATT	0.443000														44			63		0	0	0.003610	0	0
IRF2	3660	broad.mit.edu	37	4	185340717	185340717	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:185340717C>T	uc003iwf.4	-	2	293	c.93G>A	c.(91-93)aaG>aaA	p.K31K		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	31					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GAAAAATCTTCTTTTCCTGaa	0.423000														59			14		0	0	0.001786	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515731	70515731	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:70515731C>T	uc001xly.3	-	6	2914	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	SLC8A3_uc001xlv.3_Silent_p.G91G|SLC8A3_uc001xlu.3_Silent_p.G77G|SLC8A3_uc001xlw.3_Silent_p.G717G|SLC8A3_uc001xlx.3_Silent_p.G718G|SLC8A3_uc001xlz.3_Silent_p.G714G|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Silent_p.G77G	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	720					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G720G(2)|p.G718G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTCTCCTCCCCGGATTCAT	0.527000														29			17		0	0	0.001523	0	0
TTN	7273	broad.mit.edu	37	2	179665268	179665268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179665268C>T	uc021vsy.1	-	3	662	c.437G>A	c.(436-438)aGc>aAc	p.S146N	TTN_uc021vsz.1_Missense_Mutation_p.S146N|TTN_uc021vta.1_Missense_Mutation_p.S146N|TTN_uc021vtb.1_Missense_Mutation_p.S146N|TTN_uc002unb.2_Missense_Mutation_p.S146N|TTN_uc002und.3_Missense_Mutation_p.S146N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	146	Ig-like 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGGGAGCTCTGGATTTC	0.498000														88			40		0	0	0.002522	0	0
PROM2	150696	broad.mit.edu	37	2	95945724	95945724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:95945724C>T	uc002suk.3	+	10	1539	c.1406C>T	c.(1405-1407)gCt>gTt	p.A469V	PROM2_uc002suh.2_Missense_Mutation_p.A469V|PROM2_uc002sui.3_Missense_Mutation_p.A469V|PROM2_uc002suj.3_Missense_Mutation_p.A123V|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	469						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGGCGAGGCTGGAGCCCGC	0.627000														42			11		0	0	0.001368	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190023	233190023	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:233190023C>T	uc001hvl.2	-	24	4577	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E100K|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1448						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTCGGAATTCCAGTCCTCGA	0.383000														29			13		0	0	0.002450	0	0
OR8I2	120586	broad.mit.edu	37	11	55861680	55861680	+	Silent	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:55861680T>A	uc010rix.2	+	0	897	c.897T>A	c.(895-897)gcT>gcA	p.A299A		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGAAAAATGCTCTTCTGAGAG	0.398000														23			12		0	0	0.003163	0	0
RDBP	7936	broad.mit.edu	37	6	31926863	31926863	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31926863G>A	uc003nyk.3	-	1	1	c.-203_splice	c.e1-1		RDBP_uc011dot.2_Splice_Site|RDBP_uc021yvb.1_Splice_Site|MIR1236_uc021yvc.1_5'Flank|SKIV2L_uc003nyn.1_5'UTR|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_5'UTR	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.						positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TCTCGGCGGGGCTGTACCGGA	0.682000														66			84		0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963438	73963438	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:73963438C>T	uc004eby.3	-	2	1571	c.954G>A	c.(952-954)caG>caA	p.Q318Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	318					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAACATTGTCCTGAAAGGATT	0.413000														11			39		0	0	0.005524	0	0
SLC5A9	200010	broad.mit.edu	37	1	48694828	48694828	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:48694828G>A	uc001crn.2	+	3	445	c.393G>A	c.(391-393)ggG>ggA	p.G131G	SLC5A9_uc010oms.1_Intron|SLC5A9_uc001cro.2_Intron|SLC5A9_uc010omt.1_Silent_p.G124G|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_Intron	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						ggtcacacgggaggactgggg	0.542000														119			44		0	0	0.003214	0	0
DPP10	57628	broad.mit.edu	37	2	116066870	116066870	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:116066870T>C	uc002tle.3	+	1	149	c.128T>C	c.(127-129)cTg>cCg	p.L43P	DPP10_uc002tla.2_Missense_Mutation_p.L39P|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_5'UTR|DPP10_uc002tlc.2_Missense_Mutation_p.L35P|DPP10_uc002tlf.2_Missense_Mutation_p.L32P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	39	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCTATTGCTCTGCTGGTGATT	0.403000														40			22		0	0	0.006320	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438440	204438440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:204438440G>A	uc001haw.3	-	2	970	c.491C>T	c.(490-492)tCt>tTt	p.S164F	PIK3C2B_uc010pqv.2_Missense_Mutation_p.S164F|PIK3C2B_uc001hax.1_Missense_Mutation_p.S164F|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	164	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCCCAGATAGAAGCTCGGGG	0.562000														105			35		0	0	0.003271	0	0
abParts	0	broad.mit.edu	37	14	106725146	106725146	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:106725146C>T	uc021ser.1	-	928		c.22332G>A								Parts of antibodies, mostly variable regions.																		TCCCCCCCATCGTTCCTGCAG	0.597000														22			18		0	0	0.004990	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329182	23329182	+	RNA	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:23329182C>T	uc002nrb.1	+	3		c.1535C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.									p.H446N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TAAAAGAATTCATACTGGAGA	0.388000														21			8		0	0	0.004482	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567107	173567107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:173567107G>A	uc001giz.2	-	3	716	c.293C>T	c.(292-294)cCt>cTt	p.P98L	SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	98					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TATAATTAAAGGTGAAAAGTA	0.303000														89			43		0	0	0.007835	0	0
OR4K14	122740	broad.mit.edu	37	14	20482883	20482883	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:20482883G>A	uc010tky.2	-	0	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGACTGATGGAGTGCACAAA	0.488000														25			21		0	0	0.002780	0	0
RUSC1	23623	broad.mit.edu	37	1	155298061	155298061	+	Silent	SNP	C	T	T	rs141042910	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:155298061C>T	uc001fkj.2	+	8	2764	c.2535C>T	c.(2533-2535)acC>acT	p.T845T	RUSC1_uc001fkk.2_Silent_p.T739T|RUSC1_uc009wqo.1_Silent_p.T376T|RUSC1_uc001fkl.2_Silent_p.T435T|RUSC1_uc001fkp.2_Silent_p.T376T|RUSC1_uc010pgb.1_Silent_p.T343T|RUSC1_uc009wqp.1_Silent_p.T370T|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_Silent_p.T154T|RUSC1_uc001fkr.2_Silent_p.T376T	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	845	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGTGCAAACCCATAGGTAAG	0.527000														73			26		0	0	0.007291	0	0
CDC16	8881	broad.mit.edu	37	13	115022681	115022681	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:115022681G>T	uc001vuk.1	+	12	1424	c.1226G>T	c.(1225-1227)gGc>gTc	p.G409V	CDC16_uc001vul.1_Missense_Mutation_p.G409V|CDC16_uc001vum.1_Missense_Mutation_p.G315V|CDC16_uc001vun.1_Missense_Mutation_p.G408V|CDC16_uc001vuo.1_Intron	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	409					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CATGAGGTCGGCGTGGTTGCA	0.423000														49			36		6.05902e-23	1.09971e-22	0.003755	1	0
GALNT12	79695	broad.mit.edu	37	9	101594159	101594159	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:101594159C>T	uc004ayz.3	+	3	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.	279						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TCGGCGGTTTCGACTGGAGGC	0.582000														19			10		0	0	0.000978	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468581	35468581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr21:35468581G>A	uc021wir.1	+	0	1084	c.1084G>A	c.(1084-1086)Ggc>Agc	p.G362S	SLC5A3_uc002yto.3_Missense_Mutation_p.G362S|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	362						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGTTCCTGTGGGCCTTCGGGG	0.498000														401			226		0	0	0.003610	0	0
MYH15	22989	broad.mit.edu	37	3	108147639	108147639	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:108147639G>T	uc003dxa.1	-	27	3519	c.3462C>A	c.(3460-3462)gaC>gaA	p.D1154E		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1154						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCAGCCAGGTCTTGGGTGA	0.473000														116			46		1.42923e-14	2.58357e-14	0.003610	1	0
CYP11B2	1585	broad.mit.edu	37	8	143998537	143998537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:143998537C>T	uc003yxk.1	-	1	336	c.333G>A	c.(331-333)atG>atA	p.M111I		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	111					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTCCAGGATCATCCTGCAGG	0.592000									Familial Hyperaldosteronism type I					49			18		0	0	0.004990	0	0
FCHSD1	89848	broad.mit.edu	37	5	141028737	141028737	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:141028737A>G	uc003llk.3	-	6	563	c.512_splice	c.e6+1	p.R171_splice	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Splice_Site	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	171									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGACCCCACCTGGCCTGG	0.627000														17			27		0	0	0.005443	0	0
MUSK	4593	broad.mit.edu	37	9	113562764	113562764	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:113562764G>A	uc022blv.1	+	14	2240	c.2106G>A	c.(2104-2106)caG>caA	p.Q702Q	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.Q613Q|MUSK_uc022blu.1_Silent_p.Q603Q	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	702	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GTGCTGAGCAGCTTTGCATTG	0.592000														62			74		0	0	0.003610	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290506	132290506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:132290506C>T	uc002tta.3	+	5	998	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	CCDC74A_uc002ttb.3_Missense_Mutation_p.P250S|CCDC74A_uc021vpq.1_Silent_p.F251F|CCDC74A_uc021vpr.1_Missense_Mutation_p.P313S	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCTAGCTTTCCCAGGTGAGT	0.647000														99			14		0	0	0.004990	0	0
OR2G2	81470	broad.mit.edu	37	1	247752384	247752384	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247752384C>T	uc010pyy.2	+	0	723	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGAAAGCATTCGGGACCTGCT	0.502000														57			39		0	0	0.004289	0	0
PID1	55022	broad.mit.edu	37	2	229890500	229890500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:229890500C>T	uc002vpr.4	-	2	639	c.601G>A	c.(601-603)Gag>Aag	p.E201K	PID1_uc002vps.4_Missense_Mutation_p.E199K|PID1_uc002vpt.4_Missense_Mutation_p.E168K|PID1_uc002vpu.4_Missense_Mutation_p.E119K	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	201	PID.					cytoplasm		p.E199*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCTCGCACTCCACGGCGTGG	0.587000														76			40		0	0	0.006999	0	0
COL7A1	1294	broad.mit.edu	37	3	48608554	48608554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:48608554G>A	uc003ctz.2	-	92	7145	c.7144C>T	c.(7144-7146)Cct>Tct	p.P2382S		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2382	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGGGCCAGGAGGCCCAGGG	0.632000														53			21		0	0	0.003330	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826237	43826237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:43826237C>T	uc010skx.2	-	20	2966	c.2966G>A	c.(2965-2967)cGa>cAa	p.R989Q	ADAMTS20_uc001rno.1_Missense_Mutation_p.R143Q|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R143Q	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	989	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAAGATTCTCGAGACCTTTC	0.368000														51			41		0	0	0.008740	0	0
OR51E2	81285	broad.mit.edu	37	11	4703487	4703487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4703487G>A	uc001lzk.2	-	1	699	c.455C>T	c.(454-456)tCc>tTc	p.S152F	OR51E2_uc021qcr.1_Missense_Mutation_p.S152F	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAAAAGAGGGATCCGCGGAC	0.542000														50			18		0	0	0.007413	0	0
PRDM10	56980	broad.mit.edu	37	11	129780501	129780501	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:129780501G>A	uc001qfm.3	-	19	3277	c.3045C>T	c.(3043-3045)ctC>ctT	p.L1015L	PRDM10_uc001qfj.3_Silent_p.L916L|PRDM10_uc001qfk.3_Silent_p.L878L|PRDM10_uc001qfl.3_Silent_p.L929L|PRDM10_uc010sbx.2_Silent_p.L925L|PRDM10_uc001qfn.3_Silent_p.L1011L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	1002	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGAGGGGCTGAGCCCCTGCT	0.582000														13			10		0	0	0.008291	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212781	43212781	+	Silent	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:43212781A>G	uc001chx.4	-	13	2330	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	LEPRE1_uc001chw.2_Intron|LEPRE1_uc001chv.2_Intron	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGACAAGGCAATGTGACCATA	0.567000														45			23		0	0	0.001882	0	0
OR1N2	138882	broad.mit.edu	37	9	125315992	125315992	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:125315992C>G	uc011lyx.2	+	0	544	c.544C>G	c.(544-546)Cgc>Ggc	p.R182G		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GTTGCTGACCCGCGTGGCTTT	0.522000														36			19		0	0	0.005443	0	0
LRP4	4038	broad.mit.edu	37	11	46911083	46911083	+	Splice_Site	SNP	C	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:46911083C>A	uc001ndn.4	-	16	2336	c.2093_splice	c.e16-1	p.G698_splice		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	698	EGF-like 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGCGGTTTTTCCCTGCTCAAA	0.567000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			32		3.70037e-05	6.6577e-05	0.001786	1	0
FUT4	2526	broad.mit.edu	37	11	94278472	94278473	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:94278472_94278473GG>AT	uc001pez.3	+	0	1456_1457	c.1173_1174GG>AT	c.(1171-1176)ccgggg>ccATgg	p.G392W	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	392					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGGCGGGCCGGGGCAGCCGGT	0.634000														18			5		0	0	0.004672	0	0
HDAC9	9734	broad.mit.edu	37	7	18631203	18631203	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:18631203G>A	uc003sui.3	+	3	521	c.480G>A	c.(478-480)acG>acA	p.T160T	HDAC9_uc003sue.3_Silent_p.T157T|HDAC9_uc011jyd.2_Silent_p.T157T|HDAC9_uc003suh.3_Silent_p.T157T|HDAC9_uc003suj.3_Silent_p.T160T|HDAC9_uc011jya.2_Silent_p.T199T|HDAC9_uc003sua.1_Silent_p.T179T|HDAC9_uc003sud.2_Silent_p.T157T|HDAC9_uc011jyc.2_Silent_p.T160T|HDAC9_uc011jyb.2_Silent_p.T157T|HDAC9_uc003suf.2_Silent_p.T188T|HDAC9_uc010kud.2_Silent_p.T160T|HDAC9_uc011jye.2_Silent_p.T129T|HDAC9_uc011jyf.2_Silent_p.T126T|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	157					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AATCAGCAACGAAAGACACTC	0.453000														35			13		0	0	0.001855	0	0
DNAJB14	79982	broad.mit.edu	37	4	100844269	100844269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:100844269C>T	uc003hvl.3	-	2	530	c.379G>A	c.(379-381)Gct>Act	p.A127T	DNAJB14_uc003hvk.3_Missense_Mutation_p.A42T|DNAJB14_uc010ili.3_Missense_Mutation_p.A60T	NM_001031723	NP_001026893	Q8TBM8	DJB14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 14 (DNAJB14), transcript variant 1, mRNA.	127	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTCTATAAGCTTTTTTCAAA	0.323000														26			11		0	0	0.000978	0	0
MUC17	140453	broad.mit.edu	37	7	100684479	100684479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:100684479C>T	uc003uxp.1	+	2	9835	c.9782C>T	c.(9781-9783)tCa>tTa	p.S3261L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCAGTTCATCTCCTCCC	0.527000														217			111		0	0	0.003610	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77515943	77515943	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:77515943G>A	uc001dhi.3	+	4	847	c.672_splice	c.e4-1	p.R224_splice	ST6GALNAC5_uc010ori.2_Splice_Site_p.E88_splice|ST6GALNAC5_uc009wbw.3_Intron	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	224					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TTCCTTCCAGGAAGATATCCA	0.418000														107			64		0	0	0.003610	0	0
NYAP2	57624	broad.mit.edu	37	2	226378312	226378312	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:226378312C>T	uc002voe.2	+	2	622	c.447C>T	c.(445-447)acC>acT	p.T149T	NYAP2_uc010fxa.1_Intron	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	149																	ACCCCAGCACCAAGCTGAGCA	0.572000														30			14		0	0	0.002450	0	0
GPLD1	2822	broad.mit.edu	37	6	24480149	24480149	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24480149G>A	uc003ned.1	-	2	303	c.192C>T	c.(190-192)atC>atT	p.I64I	GPLD1_uc010jps.1_Silent_p.I64I|GPLD1_uc003nee.3_Silent_p.I64I	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	64						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CAGGAAACACGATTCCAGCCT	0.438000														110			28		0	0	0.007291	0	0
TEAD4	7004	broad.mit.edu	37	12	3129850	3129850	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:3129850C>T	uc010sej.2	+	8	926	c.634C>T	c.(634-636)Ccc>Tcc	p.P212S	TEAD4_uc010sek.2_Missense_Mutation_p.P169S|TEAD4_uc001qln.3_Missense_Mutation_p.P83S	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	212					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCCCCCGGCACCCCCATGGCA	0.662000														40			27		0	0	0.004656	0	0
OSBPL3	26031	broad.mit.edu	37	7	24901284	24901284	+	Silent	SNP	G	A	A	rs148648017		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:24901284G>A	uc003sxf.3	-	9	1380	c.975C>T	c.(973-975)acC>acT	p.T325T	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Silent_p.T325T|OSBPL3_uc003sxh.3_Silent_p.T294T|OSBPL3_uc003sxi.3_Silent_p.T294T|OSBPL3_uc003sxj.1_Silent_p.T90T|OSBPL3_uc003sxk.1_Silent_p.T59T	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	325					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTCTGATGAGGTTTCAGAGC	0.353000														113			67		0	0	0.003610	0	0
TCF4	6925	broad.mit.edu	37	18	53128276	53128276	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:53128276G>A	uc002lga.3	-	5	644	c.584C>T	c.(583-585)cCa>cTa	p.P195L	TCF4_uc002lfy.2_Missense_Mutation_p.P51L|TCF4_uc010xdx.1_Missense_Mutation_p.P69L|TCF4_uc021ukj.1_Missense_Mutation_p.P93L|TCF4_uc021ukk.1_Missense_Mutation_p.P93L|TCF4_uc021ukl.1_Missense_Mutation_p.P91L|TCF4_uc002lfz.2_Missense_Mutation_p.P93L|TCF4_uc010dph.1_Missense_Mutation_p.P93L|TCF4_uc010dpi.3_Missense_Mutation_p.P93L|TCF4_uc010xdy.1_Missense_Mutation_p.P69L|TCF4_uc002lgc.4_Missense_Mutation_p.P14L	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	93					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GACAAAAGGTGGAGAGAGATT	0.368000														29			17		0	0	0.004990	0	0
SH3BP5	9467	broad.mit.edu	37	3	15297698	15297698	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:15297698G>A	uc003bzp.1	-	8	1452	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	SH3BP5_uc003bzq.1_Silent_p.S264S|SH3BP5_uc003bzr.1_Silent_p.S264S|AL133111_uc003bzo.1_Non-coding_Transcript	NM_004844	NP_001018009	O60239	3BP5_HUMAN	Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA.	421	Ser-rich.				intracellular signal transduction	mitochondrion	SH3 domain binding|protein kinase inhibitor activity			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						GGCCCTCAGGGGAGGtgctgc	0.522000														100			26		0	0	0.005443	0	0
PKD1L2	114780	broad.mit.edu	37	16	81190503	81190503	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:81190503C>T	uc002fgh.1	-	23	4086	c.4086G>A	c.(4084-4086)gtG>gtA	p.V1362V	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1362					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCGCCCAGATCACCACCAGCA	0.567000														32			11		0	0	0.001368	0	0
TDRD5	163589	broad.mit.edu	37	1	179660029	179660029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:179660029C>T	uc010pnp.2	+	17	3577	c.3059C>T	c.(3058-3060)tCc>tTc	p.S1020F	TDRD5_uc021pfm.1_Missense_Mutation_p.S966F|TDRD5_uc001gnf.2_Missense_Mutation_p.S966F|TDRD5_uc021pfn.1_Missense_Mutation_p.S1020F|TDRD5_uc001gnh.2_Missense_Mutation_p.S521F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	966					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTAGCTACATCCAGGAGCCTC	0.507000														72			21		0	0	0.001882	0	0
MAPK4	5596	broad.mit.edu	37	18	48255601	48255601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:48255601G>A	uc002lev.3	+	5	2141	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	MAPK4_uc010xdm.2_Missense_Mutation_p.D170N|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	381					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTACAGCGCGACCCGCGCGC	0.677000														78			19		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	8999411	8999411	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:8999411C>T	uc002mkp.3	-	55	40968	c.40764G>A	c.(40762-40764)agG>agA	p.R13588R	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.R405R|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13590	SEA 10.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGACTGTCCCTGTCCAGGG	0.572000														184			98		0	0	0.003610	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282888	140282888	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:140282888G>A	uc003etn.3	+	15	2758	c.2568G>A	c.(2566-2568)cgG>cgA	p.R856R		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	856					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						ACCGGGTCCGGATCGCCCACC	0.552000										HNSCC(16;0.037)				86			43		0	0	0.002852	0	0
C7	730	broad.mit.edu	37	5	40937739	40937739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:40937739G>A	uc003jmh.3	+	5	628	c.514G>A	c.(514-516)Gat>Aat	p.D172N	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	172	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTTTAGTGGGGATGGAAAAGA	0.403000														22			15		0	0	0.002450	0	0
C15orf2	23742	broad.mit.edu	37	15	24923809	24923809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:24923809C>T	uc001ywo.3	+	0	3269	c.2795C>T	c.(2794-2796)tCa>tTa	p.S932L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	932					cell differentiation|multicellular organismal development|spermatogenesis			p.S932S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		ACATCTCCTTCAGTCCAGCCA	0.498000														75			32		0	0	0.002836	0	0
IPO11	51194	broad.mit.edu	37	5	61779984	61779984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:61779984G>A	uc011cqr.2	+	10	1419	c.1289G>A	c.(1288-1290)gGc>gAc	p.G430D	IPO11_uc003jtc.3_Missense_Mutation_p.G390D	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	390						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GACCCAGAAGGCTTTAGTAAG	0.313000														40			14		0	0	0.003163	0	0
IL21R	50615	broad.mit.edu	37	16	27460569	27460569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:27460569C>T	uc002dor.2	+	9	2196	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	IL21R_uc002doq.2_Missense_Mutation_p.P528S|IL21R_uc002dos.2_Missense_Mutation_p.P528S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	528					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTCATTCCTCCGCCACTTTC	0.652000			T	BCL6	NHL									44			7		0	0	0.006214	0	0
TRERF1	55809	broad.mit.edu	37	6	42237006	42237006	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:42237006C>T	uc003ose.2	-	4	886	c.323G>A	c.(322-324)tGg>tAg	p.W108*	TRERF1_uc011duq.1_Nonsense_Mutation_p.W108*|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Nonsense_Mutation_p.W108*	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	108					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTGCCCCCCACATCATGTT	0.592000														140			133		0	0	0.003610	0	0
LTBP2	4053	broad.mit.edu	37	14	75078537	75078537	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:75078537C>T	uc001xqa.3	-	0	498	c.111G>A	c.(109-111)agG>agA	p.R37R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	37			R -> M (in dbSNP:rs934996).		protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTACGGGGTCCCTTTGGGCAT	0.706000														30			11		0	0	0.001368	0	0
LGI1	9211	broad.mit.edu	37	10	95557002	95557002	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:95557002C>T	uc001kjc.4	+	7	1452	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Silent_p.S324S|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	372					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.S372S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CCCATCAATCCTTACACGCGT	0.413000														42			27		0	0	0.004656	0	0
KIF2B	84643	broad.mit.edu	37	17	51902354	51902354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:51902354G>A	uc002iua.2	+	0	2116	c.1960G>A	c.(1960-1962)Gag>Aag	p.E654K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	654					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCTCTGACCGAGATCCAAAA	0.453000														50			33		0	0	0.004289	0	0
RETSAT	54884	broad.mit.edu	37	2	85576630	85576630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:85576630G>A	uc002spd.3	-	4	1065	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.P231S	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	292					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CCCCCTCGGGGATAAAAGCCT	0.572000														56			22		0	0	0.002780	0	0
SUN5	140732	broad.mit.edu	37	20	31585462	31585462	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:31585462C>T	uc002wyi.3	-	5	465	c.372G>A	c.(370-372)tcG>tcA	p.S124S		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA.	124					spermatogenesis					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTTCATTTTCGATGGTAAGT	0.473000														52			26		0	0	0.008361	0	0
PGK2	5232	broad.mit.edu	37	6	49754784	49754784	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:49754784C>T	uc003ozu.3	-	0	270	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	39					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGCCTTGATCCTCTGGTTGT	0.463000														141			52		0	0	0.003610	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999479	22999479	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22999479G>A	uc001yus.3	+	28	3455	c.3351G>A	c.(3349-3351)ggG>ggA	p.G1117G	CYFIP1_uc001yut.3_Silent_p.G1117G|CYFIP1_uc001yuu.3_Silent_p.G686G|CYFIP1_uc001yuv.3_Silent_p.G311G	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1117					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCAGCAATGGGGTCATGCATG	0.582000														45			16		0	0	0.004990	0	0
DCC	1630	broad.mit.edu	37	18	50278509	50278509	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:50278509C>T	uc002lfe.2	+	1	793	c.177C>T	c.(175-177)ctC>ctT	p.L59L	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	59	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGTCCTCCTCGACTGCTCCG	0.507000														56			25		0	0	0.003330	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315848	73315849	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:73315848_73315849AC>TA	uc002siu.4	-	2	1138_1139	c.897_898GT>TA	c.(895-900)ctgttc>ctTAtc	p.F300I	RAB11FIP5_uc002sit.4_Missense_Mutation_p.F222I	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	300					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTATGGGTGAACAGCTTGGGGG	0.619000														28			9		0	0	0.004672	0	0
GDPD4	220032	broad.mit.edu	37	11	76969473	76969473	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:76969473G>A	uc001oyf.3	-	9	1073	c.822C>T	c.(820-822)ttC>ttT	p.F274F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	274	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GAGTCGATAGGAAATCCCAGT	0.433000														93			46		0	0	0.003214	0	0
HLX	3142	broad.mit.edu	37	1	221055508	221055508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:221055508C>T	uc001hmv.4	+	2	1232	c.775C>T	c.(775-777)Ccc>Tcc	p.P259S		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	259					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		TGCGGCAGGTCCCTATGCTGT	0.592000														45			14		0	0	0.003163	0	0
OR7D2	162998	broad.mit.edu	37	19	9296743	9296743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:9296743G>A	uc002mkz.1	+	0	474	c.286G>A	c.(286-288)Gac>Aac	p.D96N		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	96					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTCCTACATGGACTGCCTCAC	0.522000														169			54		0	0	0.003610	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555132	44555132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:44555132G>A	uc010xdb.2	-	0	1318	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	361	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.S361L(2)|p.S361*(2)|p.Y360*(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTCAAGAACCGAGTAGGGGAC	0.627000														699			19		0	0	0.003330	0	0
CD163	9332	broad.mit.edu	37	12	7651720	7651720	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:7651720G>A	uc001qsz.3	-	3	650	c.522C>T	c.(520-522)atC>atT	p.I174I	CD163_uc001qta.3_Silent_p.I174I|CD163_uc009zfw.2_Silent_p.I174I	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	174	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTTGGAATTTGATCTCTATTC	0.428000														198			99		0	0	0.003610	0	0
BRSK2	9024	broad.mit.edu	37	11	1466993	1466993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:1466993C>T	uc001ltm.3	+	11	1473	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	BRSK2_uc009ycv.1_Missense_Mutation_p.P361L|BRSK2_uc001lth.1_Missense_Mutation_p.P361L|BRSK2_uc001lti.3_Missense_Mutation_p.P361L|BRSK2_uc001ltl.3_Missense_Mutation_p.P361L|BRSK2_uc001ltj.3_Missense_Mutation_p.P361L|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	361					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCAGACCCTCCCCGGAAGCGT	0.687000														30			18		0	0	0.007413	0	0
DPPA2	151871	broad.mit.edu	37	3	109028175	109028175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:109028175G>A	uc003dxo.3	-	3	431	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	62						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAAGTAGATGACCTAAGACA	0.398000														48			24		0	0	0.002780	0	0
JUP	3728	broad.mit.edu	37	17	39680764	39680764	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:39680764C>T	uc010wfs.2	-	6	1186	c.1178G>A	c.(1177-1179)gGa>gAa	p.G393E	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.G230E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GACCTGGCCTCCCACTTGGCC	0.597000														87			37		0	0	0.006230	0	0
MYOM2	9172	broad.mit.edu	37	8	2092846	2092846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:2092846C>T	uc003wpx.4	+	36	4477	c.4339C>T	c.(4339-4341)Ccg>Tcg	p.P1447S	MYOM2_uc011kwi.2_Missense_Mutation_p.P872S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1447					muscle contraction	myosin filament	structural constituent of muscle	p.A1446V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACATGGCCCCGCCCCAGCA	0.572000														33			21		0	0	0.001882	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575308	86575308	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:86575308A>G	uc002fjn.3	-	6	727	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	MTHFSD_uc002fjm.3_Missense_Mutation_p.F225L|MTHFSD_uc010voo.2_Missense_Mutation_p.F206L|MTHFSD_uc010vop.2_Missense_Mutation_p.F63L|MTHFSD_uc010voq.2_Missense_Mutation_p.F225L|MTHFSD_uc010vor.2_Missense_Mutation_p.F226L|MTHFSD_uc002fjo.3_Missense_Mutation_p.F63L|MTHFSD_uc002fjp.2_Missense_Mutation_p.F206L	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	226					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CCCACCTTGAACCAGGTGATT	0.557000														32			10		0	0	0.006214	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711975	40711975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:40711975C>T	uc011aor.2	+	20	5144	c.4933C>T	c.(4933-4935)Cgt>Tgt	p.R1645C	TNRC6B_uc003aym.3_Missense_Mutation_p.R841C|TNRC6B_uc003ayn.4_Missense_Mutation_p.R1535C|TNRC6B_uc003ayo.3_Missense_Mutation_p.R1392C	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1645					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGGCTCAGTTCGTCCTAGTTA	0.418000														26			7		0	0	0.003080	0	0
MKRN3	7681	broad.mit.edu	37	15	23811104	23811104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:23811104C>T	uc001ywh.4	+	0	651	c.175C>T	c.(175-177)Cct>Tct	p.P59S	MKRN3_uc001ywi.3_Missense_Mutation_p.P59S|MKRN3_uc010ayi.1_Missense_Mutation_p.P59S	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	59						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGCCCCCTTCCCTGTAGCTCC	0.687000														38			19		0	0	0.006122	0	0
LOX	4015	broad.mit.edu	37	5	121409765	121409765	+	Silent	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:121409765T>C	uc003ksu.3	-	3	1353	c.978A>G	c.(976-978)gaA>gaG	p.E326E	LOX_uc010jcp.3_Silent_p.E29E|LOX_uc010jcq.3_Silent_p.E29E|LOX_uc010jcr.3_Silent_p.E29E|LOX_uc011cwk.2_Silent_p.E96E	NM_002317	NP_002308	P28300	LYOX_HUMAN	Homo sapiens lysyl oxidase (LOX), transcript variant 1, mRNA.	326	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		AGGATGTGTCTTCAAGACAGA	0.493000														85			71		0	0	0.003610	0	0
ANK1	286	broad.mit.edu	37	8	41550298	41550298	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:41550298G>A	uc003xok.3	-	30	3810	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.F558F|ANK1_uc003xoi.3_Silent_p.F1242F|ANK1_uc003xoj.3_Silent_p.F1242F|ANK1_uc003xol.3_Silent_p.F1242F|ANK1_uc003xom.3_Silent_p.F1283F	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1242					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAAAGATGACGAATTTGGCCA	0.537000														207			83		0	0	0.003610	0	0
PYGL	5836	broad.mit.edu	37	14	51379768	51379768	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:51379768C>T	uc001wyu.3	-	12	1726	c.1599G>A	c.(1597-1599)cgG>cgA	p.R533R	PYGL_uc010tqq.2_Silent_p.R499R	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	533					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.L532F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TGGCGAGTTCCCGGAGGAAGA	0.478000														50			19		0	0	0.001523	0	0
KIFC1	3833	broad.mit.edu	37	6	33373280	33373280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:33373280C>T	uc003oef.4	+	6	1858	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	KIFC1_uc011drf.2_Missense_Mutation_p.R462W	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	Homo sapiens kinesin family member C1 (KIFC1), mRNA.	470	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGAGACTGTCCGGGACCTGCT	0.607000														17			20		0	0	0.008871	0	0
SYT9	143425	broad.mit.edu	37	11	7335104	7335104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:7335104C>T	uc001mfe.3	+	2	1213	c.976C>T	c.(976-978)Cac>Tac	p.H326Y	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	326						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGTGGTGGATCACTTCCTAGA	0.473000														142			68		0	0	0.003610	0	0
CACNA1A	773	broad.mit.edu	37	19	13409729	13409729	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:13409729C>T	uc002mwy.3	-	18	2954	c.2718G>A	c.(2716-2718)cgG>cgA	p.R906R	CACNA1A_uc010dzc.2_Silent_p.R432R|CACNA1A_uc010xnd.2_Silent_p.R909R|CACNA1A_uc021ups.1_Silent_p.R906R|CACNA1A_uc010xne.2_Silent_p.R909R|CACNA1A_uc010dze.2_Silent_p.R906R|CACNA1A_uc021upt.1_Silent_p.R907R	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	907					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGCTGCCCTCCCGGGCGTGGT	0.771000														15			8		0	0	0.004482	0	0
HOXA3	3200	broad.mit.edu	37	7	27150097	27150097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:27150097G>A	uc011jzl.2	-	1	363	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	HOXA3_uc003syk.3_Missense_Mutation_p.P55S	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	55					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCTGGAGGGAGACTGGAGG	0.692000														20			6		0	0	0.001984	0	0
USH2A	7399	broad.mit.edu	37	1	216040459	216040460	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:216040459_216040460GG>AA	uc001hku.1	-	43	9121_9122	c.8734_8735CC>TT	c.(8734-8736)ccg>TTg	p.P2912L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2912	Fibronectin type-III 15.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P2912R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCGGCTCGGTGTAAAACCC	0.426000										HNSCC(13;0.011)				83			30		0	0	0.004672	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166457	19166457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:19166457G>A	uc001bba.1	-	5	2157	c.2156C>T	c.(2155-2157)tCc>tTc	p.S719F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	719					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGGTTACAGGAGACAATTGT	0.557000														41			18		0	0	0.004990	0	0
C16orf48	84080	broad.mit.edu	37	16	67700148	67700148	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:67700148T>G	uc002etw.1	-	1	389	c.106A>C	c.(106-108)Aac>Cac	p.N36H	C16orf48_uc002etv.1_5'Flank|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.3_5'Flank|C16orf86_uc002etz.3_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	36						microtubule cytoskeleton	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCAGCGCGTTTCCCTCGAGG	0.721000														38			12		0	0	0.001855	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68235255	68235255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:68235255C>T	uc001xka.2	-	29	5771	c.5632G>A	c.(5632-5634)Gag>Aag	p.E1878K	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.E1878K	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1878					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCTGAAGGCTCCTCTGGTACA	0.393000														113			43		0	0	0.003610	0	0
AMACR	23600	broad.mit.edu	37	5	34007990	34007991	+	Missense_Mutation	DNP	GC	CT	CT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:34007990_34007991GC>CT	uc003jij.3	-	0	230_231	c.134_135GC>AG	c.(133-135)cgc>cAG	p.R45Q	AMACR_uc003jig.3_Missense_Mutation_p.R45Q|AMACR_uc003jih.3_Missense_Mutation_p.R45Q|AMACR_uc003jik.2_Missense_Mutation_p.R45Q|AMACR_uc003jil.2_Missense_Mutation_p.R45Q	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	45					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CCCGGCCCAAGCGGCTCACGTC	0.723000														9			5		0	0	0.004672	0	0
PTPRD	5789	broad.mit.edu	37	9	8518238	8518238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:8518238G>A	uc003zkk.3	-	20	1896	c.1153C>T	c.(1153-1155)Ccc>Tcc	p.P385S	PTPRD_uc003zkp.3_Missense_Mutation_p.P385S|PTPRD_uc003zkq.3_Missense_Mutation_p.P385S|PTPRD_uc003zkr.3_Missense_Mutation_p.P379S|PTPRD_uc003zks.3_Missense_Mutation_p.P375S|PTPRD_uc022bdj.1_Missense_Mutation_p.P382S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	385	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCGAGTAGGGACTTAGTCCA	0.463000										TSP Lung(15;0.13)				47			43		0	0	0.002522	0	0
AIF1	199	broad.mit.edu	37	6	31583122	31583122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:31583122G>A	uc003nuy.3	+	0	90	c.16G>A	c.(16-18)Gat>Aat	p.D6N	AIF1_uc010jsy.3_Intron|AIF1_uc003nva.3_5'Flank	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	6					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CCAAACCAGGGATTTACAGGG	0.582000														74			13		0	0	0.003163	0	0
ALOX5	240	broad.mit.edu	37	10	45940956	45940956	+	Splice_Site	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:45940956C>T	uc001jce.3	+	14	1945	c.1846_splice	c.e14-1	p.L616_splice	ALOX5_uc009xmt.3_Splice_Site_p.L584_splice|ALOX5_uc010qfg.2_Splice_Site_p.L559_splice|ALOX5_uc021ppr.1_Splice_Site_p.A499_splice	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	616	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGGCCCTCAGCTGTTCCTGGG	0.552000														51			20		0	0	0.008871	0	0
IRF6	3664	broad.mit.edu	37	1	209961873	209961873	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:209961873G>A	uc001hhq.2	-	8	1600	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	IRF6_uc010psm.2_Silent_p.I337I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	432					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557000										HNSCC(57;0.16)				101			30		0	0	0.001786	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198492542	198492542	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:198492542C>T	uc009wzd.3	-	3	389	c.354G>A	c.(352-354)gtG>gtA	p.V118V	ATP6V1G3_uc001gup.3_Silent_p.V112V|ATP6V1G3_uc001guo.3_3'UTR	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	112					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CTCTGTAGTTCACATGGATTT	0.388000														47			8		0	0	0.003080	0	0
PIDD	55367	broad.mit.edu	37	11	803367	803367	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:803367G>A	uc001lro.2	-	2	663	c.516C>T	c.(514-516)gcC>gcT	p.A172A	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Silent_p.A26A|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Silent_p.A26A|PIDD_uc001lrk.2_Silent_p.A172A|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	172					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GGAAGGTGAGGGCGGGGAGGG	0.652000														49			31		0	0	0.004878	0	0
NOD2	64127	broad.mit.edu	37	16	50745788	50745788	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:50745788G>C	uc002egm.1	+	3	2071	c.1966G>C	c.(1966-1968)Gac>Cac	p.D656H	NOD2_uc021tia.1_Missense_Mutation_p.D488H|NOD2_uc010cbk.1_Missense_Mutation_p.D629H|NOD2_uc002egl.1_Missense_Mutation_p.D434H|NOD2_uc010cbl.1_Missense_Mutation_p.D434H|NOD2_uc010cbm.1_Missense_Mutation_p.D434H|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	656					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GGAGGGAAAGGACAGCAGCGT	0.617000														39			20		0	0	0.001523	0	0
OR2G2	81470	broad.mit.edu	37	1	247752016	247752016	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:247752016G>T	uc010pyy.2	+	0	355	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P118P(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CGTCCTCCCGGCTGTGATGTC	0.527000														92			52		1.53716e-24	2.79559e-24	0.003610	1	0
CYP3A4	1576	broad.mit.edu	37	7	99367813	99367813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:99367813C>T	uc003urv.2	-	4	471	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYP3A4_uc003urw.2_Missense_Mutation_p.E122K|CYP3A4_uc011kiz.2_Intron	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	122					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TCTTCATCCTCAGCTATAGAG	0.403000														44			8		0	0	0.000978	0	0
IKBKE	9641	broad.mit.edu	37	1	206653802	206653802	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206653802G>C	uc001hdz.2	+	12	1931	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H	IKBKE_uc001hea.2_Missense_Mutation_p.Q366H|IKBKE_uc009xbv.2_Missense_Mutation_p.Q451H	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	451	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					AGGTGCTCCAGGCCACATGCA	0.617000														37			7		0	0	0.003080	0	0
ACACA	31	broad.mit.edu	37	17	35445884	35445884	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:35445884C>T	uc002hnm.3	-	54	7097	c.6906G>A	c.(6904-6906)aaG>aaA	p.K2302K	ACACA_uc002hnk.3_Silent_p.K2224K|ACACA_uc002hnl.3_Silent_p.K2244K|ACACA_uc002hnn.3_Silent_p.K2302K|ACACA_uc002hno.3_Silent_p.K2339K|ACACA_uc010cuy.3_Silent_p.K947K|ACACA_uc010wdb.2_Silent_p.K340K|ACACA_uc010wdc.2_Silent_p.K428K	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2302					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGCGGATTTGCTTGAGGACGT	0.463000														177			75		0	0	0.003610	0	0
LIPH	200879	broad.mit.edu	37	3	185232280	185232280	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:185232280A>C	uc003fpm.3	-	7	1122	c.1012T>G	c.(1012-1014)Tgg>Ggg	p.W338G	LIPH_uc010hyh.3_Missense_Mutation_p.W304G	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	338					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.W338L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTCTTGTTCCATGTTATAATA	0.388000														348			150		0	0	0.003610	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328960	88328960	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr13:88328960C>T	uc001vln.3	+	1	1536	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	SLITRK5_uc010tic.1_Silent_p.H198H|SLITRK5_uc021rlc.1_Silent_p.H439H	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	439						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCTCCTGCACCTGGGGAATA	0.572000														37			15		0	0	0.004990	0	0
HRNR	388697	broad.mit.edu	37	1	152187750	152187750	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:152187750T>C	uc001ezt.1	-	2	6431	c.6355A>G	c.(6355-6357)Agt>Ggt	p.S2119G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2119					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTGTAACTAGAGGACTGC	0.577000														485			16		0	0	0.002096	0	0
NID1	4811	broad.mit.edu	37	1	236176752	236176752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:236176752G>A	uc001hxo.3	-	10	2465	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	NID1_uc009xgd.3_Intron|NID1_uc009xgc.3_5'Flank	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	788	EGF-like 4.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGGCAAGCAGGAACAGGTGTA	0.552000														41			21		0	0	0.002299	0	0
PI16	221476	broad.mit.edu	37	6	36922597	36922597	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:36922597A>C	uc021yzd.1	+	1	284	c.61A>C	c.(61-63)Acc>Ccc	p.T21P	PI16_uc003omz.1_Missense_Mutation_p.T21P|PI16_uc003ona.3_Missense_Mutation_p.T21P	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	21						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						gctggtgGCCACCACAGGCCC	0.622000														56			13		0	0	0.003163	0	0
CLEC18B	497190	broad.mit.edu	37	16	74444922	74444922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:74444922C>T	uc002fct.3	-	8	1195	c.995G>A	c.(994-996)gGg>gAg	p.G332E	CLEC18B_uc002fcu.3_Missense_Mutation_p.G332E|CLEC18B_uc010vmu.1_3'UTR	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	332	C-type lectin.					extracellular region	sugar binding	p.G332R(6)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGCCAGCACCCCGCCTTTCCT	0.617000														56			10		0	0	0.001855	0	0
ATP2B2	491	broad.mit.edu	37	3	10428192	10428192	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:10428192C>T	uc003bvt.3	-	6	1351	c.912G>A	c.(910-912)gtG>gtA	p.V304V	ATP2B2_uc003bvv.3_Intron|ATP2B2_uc003bvw.3_Intron|ATP2B2_uc010hdo.3_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	304					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCCCCTTCTTCACACCTGTGT	0.512000														60			22		0	0	0.005443	0	0
HMG20A	10363	broad.mit.edu	37	15	77769935	77769935	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:77769935C>T	uc002bcr.3	+	7	855	c.654C>T	c.(652-654)atC>atT	p.I218I	HMG20A_uc002bcs.3_Silent_p.I218I	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	218					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TTTTTGACATCCCTATATTTA	0.338000														26			15		0	0	0.007413	0	0
EHD1	10938	broad.mit.edu	37	11	64627595	64627595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:64627595G>A	uc010rnq.1	-	3	805	c.758C>T	c.(757-759)tCc>tTc	p.S253F	EHD1_uc001obu.1_Missense_Mutation_p.S239F|EHD1_uc001obv.1_Missense_Mutation_p.S239F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	239					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTTGCCCAGGGACCACATGAG	0.602000														35			11		0	0	0.002450	0	0
NBPF1	55672	broad.mit.edu	37	1	16907369	16907369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:16907369G>A	uc009vos.1	-	15	2350	c.1462C>T	c.(1462-1464)Cct>Tct	p.P488S	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P217S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	488	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGTCACAAGGGCCGTGGCTA	0.498000														454			29		0	0	0.003610	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625948	140625948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:140625948G>A	uc003lje.3	+	0	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	268	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCTAGGGATTTAGACAC	0.498000														9			14		0	0	0.001855	0	0
CRB1	23418	broad.mit.edu	37	1	197390234	197390234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:197390234G>A	uc001gtz.3	+	5	1485	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	CRB1_uc010poz.2_Missense_Mutation_p.D357N|CRB1_uc009wza.3_Missense_Mutation_p.D314N|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.D426N|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.D75N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	426	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCCCATTTGATAACCTTTC	0.428000														106			40		0	0	0.002222	0	0
ANGPT1	284	broad.mit.edu	37	8	108264223	108264223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:108264223C>T	uc003ymn.3	-	8	1825	c.1357G>A	c.(1357-1359)Ggc>Agc	p.G453S	ANGPT1_uc011lhv.2_Missense_Mutation_p.G253S|ANGPT1_uc003ymo.3_Missense_Mutation_p.G452S	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	453	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTGGAGGGGCCACAAGCATCA	0.383000														84			36		0	0	0.005524	0	0
CNTN5	53942	broad.mit.edu	37	11	99941237	99941237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:99941237G>A	uc001pga.3	+	10	1748	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CNTN5_uc009ywv.2_Missense_Mutation_p.G415E|CNTN5_uc001pfz.3_Missense_Mutation_p.G415E|CNTN5_uc021qpb.1_Missense_Mutation_p.G415E|CNTN5_uc021qpc.1_Missense_Mutation_p.G341E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	415	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGGCTACTGGAAAACCCAGA	0.473000														11			14		0	0	0.003163	0	0
GLYAT	10249	broad.mit.edu	37	11	58480261	58480261	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:58480261G>A	uc001nnb.3	-	3	443	c.288C>T	c.(286-288)atC>atT	p.I96I	GLYAT_uc001nnc.3_Silent_p.I96I	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.I96N(1)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTTTCCAGTTGATGAGTTCTG	0.393000														51			25		0	0	0.003954	0	0
FAM72A	729533	broad.mit.edu	37	1	206145496	206145496	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:206145496C>T	uc001hdr.4	+	2	667	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_001123168	NP_001116640	Q5TYM5	FA72A_HUMAN	Homo sapiens family with sequence similarity 72, member A (FAM72A), mRNA.	91										endometrium(2)	2						CATGTAGTTCCTGTCTTCTTT	0.373000														317			104		0	0	0.003610	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487579	21487579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:21487579C>T	uc001rer.3	-	0	254	c.3G>A	c.(1-3)atG>atA	p.M1I	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.M1I|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	1					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						CAGTTTCTCCCATGTTGCTCT	0.318000														74			21		0	0	0.002780	0	0
SCN5A	6331	broad.mit.edu	37	3	38628984	38628984	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:38628984C>T	uc021wvo.1	-	13	2395	c.2343G>A	c.(2341-2343)tgG>tgA	p.W781*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvq.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvr.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvs.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvt.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvu.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvv.1_Nonsense_Mutation_p.W781*|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W647*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W647*|SCN5A_uc021wvw.1_Nonsense_Mutation_p.W392*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	781					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CGAAGATGTTCCAGCCCTGTT	0.547000														50			9		0	0	0.008291	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515792	47515792	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:47515792C>T	uc001cqt.3	+	11	1726	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	CYP4X1_uc001cqr.3_Silent_p.I491I|CYP4X1_uc001cqs.3_Silent_p.I427I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	492						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCATTTTATCCTCAAGCCCA	0.418000														86			44		0	0	0.003610	0	0
SPOCK3	50859	broad.mit.edu	37	4	167983649	167983649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:167983649C>T	uc011cjq.1	-	1	322	c.265G>A	c.(265-267)Gat>Aat	p.D89N	SPOCK3_uc021xuf.1_Missense_Mutation_p.D80N|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Missense_Mutation_p.D80N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D29N|SPOCK3_uc003irj.1_Missense_Mutation_p.D77N|SPOCK3_uc011cjt.1_Intron|SPOCK3_uc011cjp.2_Missense_Mutation_p.D77N|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.D77N|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	80					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TTACCCTGATCGAAGGGTTTT	0.323000														44			18		0	0	0.007413	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751659	73751659	+	Splice_Site	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:73751659G>A	uc011dyh.2	+	3	837	c.490_splice	c.e3-1	p.E164_splice	KCNQ5_uc003pgj.4_Splice_Site_p.E164_splice|KCNQ5_uc011dyi.2_Splice_Site_p.E164_splice|KCNQ5_uc010kat.3_Splice_Site_p.E164_splice|KCNQ5_uc003pgk.3_Splice_Site_p.E164_splice|KCNQ5_uc011dyj.2_Splice_Site_p.E164_splice|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	164					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATATTTTAGGAGTTCGTGAT	0.403000														162			77		0	0	0.003610	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554022	135554022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr9:135554022C>T	uc010mzv.3	+	1	1274	c.1016C>T	c.(1015-1017)cCc>cTc	p.P339L	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	339					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	p.G338V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCTTTTGGACCCATAAAAATT	0.418000														35			33		0	0	0.002445	0	0
FAM19A2	338811	broad.mit.edu	37	12	62148789	62148789	+	Silent	SNP	C	T	T	rs146457934		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:62148789C>T	uc001sqw.3	-	2	1705	c.123G>A	c.(121-123)acG>acA	p.T41T	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Silent_p.T41T|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	41						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		CACAAGTTCCCGTTTTAACAT	0.443000														10			14		0	0	0.004007	0	0
ZNF471	57573	broad.mit.edu	37	19	57036478	57036478	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:57036478T>A	uc002qnh.3	+	4	1175	c.1042T>A	c.(1042-1044)Tgt>Agt	p.C348S		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		ACCCTATGAATGTATTGAGTG	0.413000														39			26		0	0	0.004656	0	0
NEFM	4741	broad.mit.edu	37	8	24775965	24775965	+	Missense_Mutation	SNP	G	A	A	rs140175409	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr8:24775965G>A	uc003xed.4	+	2	2630	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	NEFM_uc011lac.1_Missense_Mutation_p.G648E|NEFM_uc010lue.3_Missense_Mutation_p.G490E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	866	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGTGAGGGGGGAGATGGTGCT	0.448000														52			27		0	0	0.003954	0	0
CD96	10225	broad.mit.edu	37	3	111319611	111319611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:111319611G>A	uc003dxw.3	+	7	1155	c.985G>A	c.(985-987)Gga>Aga	p.G329R	CD96_uc003dxv.3_Missense_Mutation_p.G313R|CD96_uc003dxx.3_Missense_Mutation_p.G313R|CD96_uc010hpy.1_Missense_Mutation_p.G313R	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	329	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGCAAAGATGGATTTTTGGA	0.378000									Opitz Trigonocephaly syndrome					47			22		0	0	0.002780	0	0
COL4A6	1288	broad.mit.edu	37	X	107412785	107412785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:107412785G>A	uc004enw.4	-	36	3737	c.3634C>T	c.(3634-3636)Cca>Tca	p.P1212S	COL4A6_uc004env.4_Missense_Mutation_p.P1211S|COL4A6_uc011msn.2_Missense_Mutation_p.P1187S|COL4A6_uc010npk.3_Missense_Mutation_p.P1187S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1212	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAATTCCTGGATATCCTTTT	0.587000									Alport syndrome with Diffuse Leiomyomatosis					13			23		0	0	0.003330	0	0
IGFL3	388555	broad.mit.edu	37	19	46627208	46627208	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:46627208C>T	uc002pea.1	-	2	310	c.285G>A	c.(283-285)gtG>gtA	p.V95V		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	95						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		CCCTCAACTTCACAAGAAACT	0.532000														78			66		0	0	0.003610	0	0
EYA2	2139	broad.mit.edu	37	20	45717880	45717880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:45717880G>A	uc002xsm.3	+	7	1038	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	EYA2_uc010ghp.3_Missense_Mutation_p.E222K|EYA2_uc002xsq.3_Missense_Mutation_p.E222K	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	222					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TACGCCAGGTGAATACAACAC	0.562000														44			34		0	0	0.004878	0	0
ZNF827	152485	broad.mit.edu	37	4	146824293	146824293	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:146824293G>A	uc003ikn.3	-	1	166	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	ZNF827_uc003ikm.3_Missense_Mutation_p.P40S|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTCTGACGGAGTCTCTGAA	0.527000														86			39		0	0	0.002522	0	0
OR51A7	119687	broad.mit.edu	37	11	4928916	4928917	+	Missense_Mutation	DNP	GA	TT	TT			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:4928916_4928917GA>TT	uc010qyq.2	+	0	317_318	c.317_318GA>TT	c.(316-318)gga>gTT	p.G106V		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATTCATGGATTCACTGTCA	0.431000														72			25		0	0	0.004672	0	0
OR4A5	81318	broad.mit.edu	37	11	51411990	51411990	+	Nonsense_Mutation	SNP	G	A	A	rs147678903		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr11:51411990G>A	uc001nhi.2	-	0	459	c.406C>T	c.(406-408)Cga>Tga	p.R136*		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R136L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAAACCTGTCGATTCATGATG	0.483000														42			34		0	0	0.002836	0	0
DCDC2	51473	broad.mit.edu	37	6	24289098	24289098	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:24289098G>A	uc003ndx.3	-	5	1043	c.741C>T	c.(739-741)tcC>tcT	p.S247S	DCDC2_uc003ndy.3_Silent_p.S247S	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	247					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				TAGACTTTCTGGATCCTACAA	0.338000														39			16		0	0	0.006122	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14848771	14848771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:14848771G>A	uc010dlo.2	+	33	3061	c.2881G>A	c.(2881-2883)Gaa>Aaa	p.E961K	ANKRD30B_uc021uhy.1_Missense_Mutation_p.E961K|ANKRD30B_uc010xal.1_Missense_Mutation_p.E103K	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1046										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGGAAGGGAACTTAAAAA	0.323000														5			5		0	0	0.001168	0	0
WASH3P	374666	broad.mit.edu	37	15	102516373	102516373	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:102516373C>T	uc002cdi.3	+	10	2119	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P432P(1)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GTGAGGGGCCCGGAGGAGCCT	0.662000														7			3		0	0	0.004672	0	0
ALPK2	115701	broad.mit.edu	37	18	56202578	56202579	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:56202578_56202579GG>AA	uc002lhj.4	-	4	5054_5055	c.4840_4841CC>TT	c.(4840-4842)cct>TTt	p.P1614F	ALPK2_uc002lhk.1_Missense_Mutation_p.P945F	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1614							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTCCTTCAGGAGATGAAGTA	0.441000														52			49		0	0	0.004672	0	0
TRIP13	9319	broad.mit.edu	37	5	901523	901523	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:901523G>A	uc003jbr.3	+	4	657	c.512G>A	c.(511-513)tGg>tAg	p.W171*	TRIP13_uc010ite.2_Nonsense_Mutation_p.W171*	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	171					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CTCATCACCTGGAACCGGGTG	0.423000														42			24		0	0	0.003954	0	0
ZNF423	23090	broad.mit.edu	37	16	49764751	49764751	+	Missense_Mutation	SNP	C	T	T	rs149531360		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:49764751C>T	uc002efs.3	-	3	506	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	70					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D70Y(3)|p.D70N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGACAGTGATCGCAGGTGTAA	0.542000														120			67		0	0	0.003610	0	0
DAB1	1600	broad.mit.edu	37	1	57537266	57537266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr1:57537266C>T	uc009vzx.1	-	5	807	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	DAB1_uc001cyt.1_Missense_Mutation_p.E163K|DAB1_uc001cyq.1_Missense_Mutation_p.E163K|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Missense_Mutation_p.E163K|DAB1_uc001cys.1_Missense_Mutation_p.E163K	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	163	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCTTCAATTCATAAATGAGT	0.413000														44			24		0	0	0.002299	0	0
CBX7	23492	broad.mit.edu	37	22	39530002	39530002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:39530002G>A	uc003axb.3	-	5	739	c.650C>T	c.(649-651)tCa>tTa	p.S217L	CBX7_uc003axc.3_Missense_Mutation_p.S124L	NM_175709	NP_783640	O95931	CBX7_HUMAN	Homo sapiens chromobox homolog 7 (CBX7), mRNA.	217					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CACCTCACTTGAGGGGAGCGC	0.657000														99			41		0	0	0.003214	0	0
DNAH5	1767	broad.mit.edu	37	5	13751222	13751222	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13751222G>A	uc003jfd.2	-	64	11218	c.11176C>T	c.(11176-11178)Cag>Tag	p.Q3726*	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3726	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAGTAACTGATCTTCTAGA	0.453000									Kartagener syndrome					48			25		0	0	0.003954	0	0
ANK3	288	broad.mit.edu	37	10	61865815	61865815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:61865815G>A	uc001jky.3	-	27	3514	c.3176C>T	c.(3175-3177)cCt>cTt	p.P1059L	ANK3_uc001jkw.3_Missense_Mutation_p.P193L|ANK3_uc009xpa.3_Missense_Mutation_p.P193L|ANK3_uc001jkx.3_Missense_Mutation_p.P237L|ANK3_uc010qih.2_Missense_Mutation_p.P1060L|ANK3_uc001jkz.4_Missense_Mutation_p.P1053L|ANK3_uc001jla.1_Missense_Mutation_p.P125L|ANK3_uc001jlb.1_Missense_Mutation_p.P577L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1059	ZU5.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACTATGACAGGGCTGGAAAA	0.333000														24			4		0	0	0.000248	0	0
DNAH5	1767	broad.mit.edu	37	5	13793828	13793828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:13793828C>T	uc003jfd.2	-	48	8062	c.8020G>A	c.(8020-8022)Gag>Aag	p.E2674K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2674	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCACTATCTCATTCGTAACC	0.423000									Kartagener syndrome					59			20		0	0	0.002299	0	0
DCC	1630	broad.mit.edu	37	18	50961516	50961516	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:50961516C>T	uc002lfe.2	+	21	3782	c.3166C>T	c.(3166-3168)Cgt>Tgt	p.R1056C	DCC_uc010dpf.2_Missense_Mutation_p.R691C	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1056					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R1056S(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATGAACAGGTCGTCATGGAGA	0.313000														192			81		0	0	0.003610	0	0
TMEM230	29058	broad.mit.edu	37	20	5090008	5090008	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:5090008G>A	uc002wlk.3	-	2	317	c.258C>T	c.(256-258)tcC>tcT	p.S86S	TMEM230_uc010gbi.3_Silent_p.S23S|TMEM230_uc002wll.3_Silent_p.S23S|TMEM230_uc002wlm.3_Silent_p.S23S|TMEM230_uc002wln.3_Silent_p.S23S	NM_001009923	NP_054864	Q96A57	CT030_HUMAN	Homo sapiens chromosome 20 open reading frame 30 (C20orf30), transcript variant 1, mRNA.	23						integral to membrane											CGTCTGTGCTGGAGAGCCTTG	0.458000														28			12		0	0	0.001855	0	0
EPB41L3	23136	broad.mit.edu	37	18	5410563	5410563	+	Splice_Site	SNP	A	G	G			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:5410563A>G	uc002kmt.1	-	14	2207	c.2121_splice	c.e14+1	p.E707_splice	EPB41L3_uc010wzh.1_Splice_Site_p.E538_splice|EPB41L3_uc002kmu.1_Splice_Site_p.E538_splice|EPB41L3_uc010dkq.1_Splice_Site_p.E429_splice|EPB41L3_uc002kms.1_Splice_Site|EPB41L3_uc010wze.1_Splice_Site|EPB41L3_uc010wzf.1_Splice_Site|EPB41L3_uc010wzg.1_Splice_Site|EPB41L3_uc010dkr.2_Splice_Site_p.E99_splice	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	707	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CAAAATACCAACCTCAGTGGC	0.542000														27			11		0	0	0.001855	0	0
GDPD3	79153	broad.mit.edu	37	16	30119699	30119699	+	Silent	SNP	C	T	T	rs145295505	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr16:30119699C>T	uc002dwp.3	-	7	841	c.762G>A	c.(760-762)tcG>tcA	p.S254S	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Silent_p.S192S	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	254	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						CTCACCATTTCGAAACCACAG	0.567000														147			63		0	0	0.003610	0	0
ADCY6	112	broad.mit.edu	37	12	49165495	49165495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:49165495C>T	uc001rsh.4	-	17	3709	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	ADCY6_uc001rsi.4_Missense_Mutation_p.E964K|ADCY6_uc001rsj.4_Missense_Mutation_p.E1017K|ADCY6_uc010slw.1_Missense_Mutation_p.E248K	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						AAAAGTACCTCATCAAAGTCA	0.527000														38			14		0	0	0.004007	0	0
OR4M2	390538	broad.mit.edu	37	15	22369242	22369242	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr15:22369242G>A	uc010tzu.2	+	0	765	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223D(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTTCCTTCTGGCCTTGTTCAA	0.473000														235			57		0	0	0.003610	0	0
LUZP4	51213	broad.mit.edu	37	X	114537898	114537898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:114537898G>A	uc004eqa.3	+	2	291	c.257G>A	c.(256-258)gGa>gAa	p.G86E	LUZP4_uc004eqb.3_Intron	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	86						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						TCTGAGGAAGGAAATCATGAT	0.343000														32			71		0	0	0.003610	0	0
KIF5B	3799	broad.mit.edu	37	10	32326471	32326471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:32326471G>A	uc001iwe.4	-	6	1033	c.563C>T	c.(562-564)tCc>tTc	p.S188F		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	188	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				ATGTCTGTTGGATTTTCCTTC	0.328000			T	"""RET, ALK"""	NSCLC									28			18		0	0	0.008871	0	0
CCDC141	285025	broad.mit.edu	37	2	179742776	179742776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:179742776G>A	uc002une.2	-	11	1932	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	CCDC141_uc002ung.3_Missense_Mutation_p.S605L|CCDC141_uc002unf.1_Missense_Mutation_p.S84L	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	30							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTTCTCAGCCGAGTCAGAACA	0.368000														62			38		0	0	0.004289	0	0
TLR10	81793	broad.mit.edu	37	4	38775969	38775969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:38775969C>T	uc003gtj.3	-	3	1881	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	TLR10_uc021xnk.1_Missense_Mutation_p.E401K|TLR10_uc003gti.3_Missense_Mutation_p.E415K|TLR10_uc021xnl.1_Missense_Mutation_p.E415K|TLR10_uc003gtk.3_Missense_Mutation_p.E415K|TLR10_uc021xnm.1_Missense_Mutation_p.E415K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	415					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAGCAATTTTCATCATTTTTA	0.353000														74			25		0	0	0.003330	0	0
HIST1H4J	8363	broad.mit.edu	37	6	27792213	27792213	+	Silent	SNP	G	A	A	rs113345516		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:27792213G>A	uc003njp.3	+	0	311	c.311G>A	c.(310-312)tGa>tAa	p.*104*	FKSG63_uc003njq.2_5'Flank	NM_021968	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4j (HIST1H4J), mRNA.	0					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(1)|pancreas(1)	4						TTCGGTGGTTGAGCGTCCCTT	0.547000														43			11		0	0	0.007413	0	0
LAMA3	3909	broad.mit.edu	37	18	21494463	21494463	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr18:21494463G>A	uc002kuq.3	+	56	7505	c.7419G>A	c.(7417-7419)gtG>gtA	p.V2473V	LAMA3_uc002kur.3_Silent_p.V2417V|LAMA3_uc002kus.4_Silent_p.V864V|LAMA3_uc002kut.4_Silent_p.V808V	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2473	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCCAAGTGGACCAGATCT	0.527000														37			23		0	0	0.002780	0	0
RICTOR	253260	broad.mit.edu	37	5	38946587	38946588	+	Missense_Mutation	DNP	AA	TG	TG			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:38946587_38946588AA>TG	uc003jlo.2	-	33	4475_4476	c.4453_4454TT>CA	c.(4453-4455)ttt>CAt	p.F1485H	RICTOR_uc003jlp.2_Missense_Mutation_p.F1461H|RICTOR_uc010ivf.2_Missense_Mutation_p.F1176H	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1461					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCATGGGCAAATGCTCTTGCA	0.361000														103			50		0	0	0.004672	0	0
IGHE	3497	broad.mit.edu	37	14	106067016	106067016	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr14:106067016G>A	uc001yrw.1	-	3	811	c.799C>T	c.(799-801)Ctg>Ttg	p.L267L	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Silent_p.L214L|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank					RecName: Full=Ig epsilon chain C region;																		GACCAGGTCAGGTTCACGGTC	0.632000														49			23		0	0	0.003954	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285757	44285757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr10:44285757C>T	uc010qfe.1	-	0	109	c.79G>A	c.(79-81)Gat>Aat	p.D27N						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		TCCTTTGGATCATGGCCCTCC	0.527000														16			7		0	0	0.003080	0	0
TRIM26	7726	broad.mit.edu	37	6	30166830	30166830	+	Silent	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr6:30166830G>A	uc003npr.3	-	2	260	c.51C>T	c.(49-51)tcC>tcT	p.S17S	TRIM26_uc003nps.3_Silent_p.S17S|TRIM26_uc003npt.3_Silent_p.S17S|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Silent_p.S17S	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	17							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CAAGACAGATGGAGCAGGTCA	0.597000														48			10		0	0	0.001368	0	0
MYO3B	140469	broad.mit.edu	37	2	171259407	171259407	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr2:171259407G>A	uc002ufy.3	+	18	2322	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	MYO3B_uc002ufv.3_Missense_Mutation_p.E714K|MYO3B_uc010fqb.1_Missense_Mutation_p.E727K|MYO3B_uc002ufz.3_Missense_Mutation_p.E727K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	727	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTTGGATTCGAGAATTTTCA	0.418000														73			34		0	0	0.004289	0	0
ERGIC3	51614	broad.mit.edu	37	20	34129922	34129922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34129922G>A	uc002xcs.3	+	0	145	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	ERGIC3_uc002xcq.1_Missense_Mutation_p.G26R|ERGIC3_uc002xcr.1_Missense_Mutation_p.G26R|ERGIC3_uc010zvg.2_Missense_Mutation_p.G26R|ERGIC3_uc002xct.3_Missense_Mutation_p.G26R	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	26					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CAAGACCTGCGGGGGCGCCAC	0.701000														18			11		0	0	0.008291	0	0
GDF5	8200	broad.mit.edu	37	20	34025173	34025173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr20:34025173G>A	uc010gfc.1	-	0	777	c.536C>T	c.(535-537)aCg>aTg	p.T179M	GDF5_uc002xck.1_Missense_Mutation_p.T179M	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	179					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATCGGACAGCGTCCTGTACAG	0.612000														75			29		0	0	0.006320	0	0
IQSEC2	23096	broad.mit.edu	37	X	53267476	53267476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chrX:53267476C>T	uc004dsd.3	-	11	3329	c.3128G>A	c.(3127-3129)gGg>gAg	p.G1043E	IQSEC2_uc004dsc.3_Missense_Mutation_p.G838E	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	1033	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CAACTTGATCCCAAACTGGTA	0.502000														11			23		0	0	0.007291	0	0
HTR5A	3361	broad.mit.edu	37	7	154876070	154876070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:154876070C>T	uc003wlu.1	+	1	1011	c.947C>T	c.(946-948)cCc>cTc	p.P316L		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	316						integral to plasma membrane	serotonin receptor activity	p.I315I(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TGTGACATCCCCGCCATCTGG	0.547000														111			46		0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82838005	82838005	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:82838005C>T	uc003kii.3	+	7	9539	c.9183C>T	c.(9181-9183)tcC>tcT	p.S3061S	VCAN_uc003kij.3_Silent_p.S2074S|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.S1725S	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3061	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S3061F(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACCATTTTCCCTTCTGGAGA	0.418000														81			42		0	0	0.002222	0	0
CCBP2	1238	broad.mit.edu	37	3	42906432	42906432	+	Silent	SNP	C	T	T			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:42906432C>T	uc003cme.3	+	2	616	c.438C>T	c.(436-438)atC>atT	p.I146I	CCBP2_uc003cmf.3_Silent_p.I146I|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.I146I	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	146					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ACCTGGAGATCGTTCATGCTC	0.507000														106			60		0	0	0.003610	0	0
RBM5	10181	broad.mit.edu	37	3	50155888	50155889	+	Frame_Shift_Del	DEL	GA	-	-	rs112672304		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr3:50155888_50155889delGA	uc003cyg.3	+	24	2622_2623	c.2447_2448delGA	c.(2446-2448)tgafs	p.*816fs	RBM5_uc011bdk.2_Frame_Shift_Del_p.*644fs|RBM5_uc003cyh.3_Frame_Shift_Del_p.*273fs|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	0					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.*816fs?(2)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.535													---	33	---	---	9	---					
PCGF3	10336	broad.mit.edu	37	4	738458	738458	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr4:738458delC	uc011bva.1	+	8	919	c.444delC	c.(442-444)tacfs	p.Y148fs	PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Frame_Shift_Del_p.Y148fs|PCGF3_uc010ibh.3_Frame_Shift_Del_p.Y148fs|PCGF3_uc003gbh.3_Frame_Shift_Del_p.Y114fs	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						ACAACGACTACCACCGCAGCG	0.637													---	4	---	---	2	---					
ADCY2	108	broad.mit.edu	37	5	7698484	7698513	+	Splice_Site	DEL	TAAAGTAAGTGGACTGCTTAGTAAGCATTT	-	-	rs142003155	byFrequency	TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr5:7698484_7698513delTAAAGTAAGTGGACTGCTTAGTAAGCATTT	uc003jdz.1	+	7	1176	c.1109_splice	c.e7+1	p.K370_splice	ADCY2_uc011cmo.1_Splice_Site_p.K190_splice	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	370					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGAAGCCATAAAGTAAGTGGACTGCTTAGTAAGCAttttgttatatgc	0.426													---	73	---	---	7	---					
MTERF	7978	broad.mit.edu	37	7	91503289	91503294	+	In_Frame_Del	DEL	CAGAAC	-	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr7:91503289_91503294delCAGAAC	uc003ulc.1	-	2	890_895	c.814_819delGTTCTG	c.(814-819)gttctgdel	p.VL272del	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_In_Frame_Del_p.VL252del|MTERF_uc010leu.1_In_Frame_Del_p.VL252del	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	272					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GACCACATATCAGAACCAGCAGTTCC	0.403													---	30	---	---	7	---					
MBD6	114785	broad.mit.edu	37	12	57921962	57921963	+	Frame_Shift_Ins	INS	-	C	C	rs149653628		TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr12:57921962_57921963insC	uc001soj.1	+	9	2663_2664	c.2439_2440insC	c.(2437-2442)ctacccfs	p.L813fs	MBD6_uc001sok.1_Frame_Shift_Ins_p.L681fs|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	813	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCTGTCTACCCCCCGAGAG	0.579													---	36	---	---	25	---					
TP53I13	90313	broad.mit.edu	37	17	27899858	27899875	+	In_Frame_Del	DEL	CTCGCGCCGGGTCAAGCG	-	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr17:27899858_27899875delCTCGCGCCGGGTCAAGCG	uc002hee.3	+	6	1136_1153	c.1098_1115delCTCGCGCCGGGTCAAGCG	c.(1096-1116)ccctcgcgccgggtcaagcgc>ccc	p.SRRVKR367del		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	367						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		TGCTGCAGCCCTCGCGCCGGGTCAAGCGCTCGCGCCGG	0.761													---	4	---	---	2	---					
SAFB2	9667	broad.mit.edu	37	19	5590342	5590343	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr19:5590342_5590343insC	uc002mcd.3	-	17	2683_2684	c.2471_2472insG	c.(2470-2472)ggcfs	p.G824fs		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	824	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CGGAGCCGTAGCCCCCCCAGCC	0.688													---	26	---	---	8	---					
MN1	4330	broad.mit.edu	37	22	28194881	28194883	+	In_Frame_Del	DEL	GCT	-	-			TCGA-EE-A29S-06A-11D-A197-08	TCGA-EE-A29S-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a9977fd-508d-4ffb-b99e-d382226adad3	bbfd5096-3607-4d1b-9f17-f535f491cf2a	g.chr22:28194881_28194883delGCT	uc003adj.3	-	0	2604_2606	c.1649_1651delAGC	c.(1648-1653)cagcgc>cgc	p.Q550del		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	550	Poly-Gln.						binding	p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTTTTGGCgctgctgctgctg	0.645			T	ETV6	"""AML, meningioma"""								---	4	---	---	2	---					
